Canonical Allele Identifier: CA2592279456

Gene: PRRT3 CRELD1

Linked Data

• gnomAD v3: 3-9940857-TGGG-T
• gnomAD v4: 3-9940857-TGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9940860_9940862del , CM000665.2:g.9940860_9940862del	GRCh38
NC_000003.11:g.9982544_9982546del , CM000665.1:g.9982544_9982546del	GRCh37
NC_000003.10:g.9957544_9957546del	NCBI36
NG_017069.1:g.12020_12022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696835.1:c.*1119_*1121del	ENSP00000512913.1:n.*1119_*1121del
ENST00000696836.1:c.*1119_*1121del	ENSP00000512914.1:n.*1119_*1121del
ENST00000696837.1:c.*1948_*1950del	ENSP00000512915.1:n.*1948_*1950del
ENST00000696838.1:c.*1119_*1121del	ENSP00000512916.1:n.*1119_*1121del
ENST00000696839.1:c.*1119_*1121del	ENSP00000512917.1:n.*1119_*1121del
ENST00000707135.1:n.1221-226_1221-224del (PRRT3)
ENST00000707136.1:n.1826-232_1826-230del (PRRT3)
ENST00000397170.8:c.471_473del (CRELD1)	ENSP00000380355.4:p.Gly158del
ENST00000414117.6:c.360_362del (CRELD1)	ENSP00000411021.2:p.Gly121del
ENST00000467713.6:n.577_579del (CRELD1)
ENST00000489674.6:n.47_49del (CRELD1)
ENST00000673635.2:c.*137_*139del (CRELD1)	ENSP00000501186.2:n.*137_*139del
ENST00000673677.2:c.471_473del (CRELD1)	ENSP00000500985.2:p.Gly158del
ENST00000673737.2:c.471_473del (CRELD1)	ENSP00000501208.1:p.Gly158del
ENST00000673935.2:c.471_473del (CRELD1)	ENSP00000500961.2:p.Gly158del
ENST00000674067.2:c.*53_*55del (CRELD1)	ENSP00000501009.2:n.*53_*55del
ENST00000681970.1:n.1137_1139del
ENST00000682120.1:n.573_575del (CRELD1)
ENST00000682122.1:c.*119_*121del	ENSP00000507036.1:n.*119_*121del
ENST00000682200.1:c.379_381del (CRELD1)	ENSP00000508321.1:p.Gly127del
ENST00000682318.1:c.268_270del (CRELD1)	ENSP00000507946.1:p.Gly90del
ENST00000682397.1:c.268_270del (CRELD1)	ENSP00000507177.1:p.Gly90del
ENST00000682403.1:c.268_270del (CRELD1)	ENSP00000507865.1:p.Gly90del
ENST00000682570.1:c.471_473del (CRELD1)	ENSP00000507973.1:p.Gly158del
ENST00000682642.1:c.471_473del (CRELD1)	ENSP00000507251.1:p.Gly158del
ENST00000682771.1:c.471_473del (CRELD1)	ENSP00000507114.1:p.Gly158del
ENST00000682783.1:c.471_473del (CRELD1)	ENSP00000508358.1:p.Gly158del
ENST00000682790.1:c.*45_*47del (CRELD1)	ENSP00000507904.1:n.*45_*47del
ENST00000682798.1:n.1076_1078del (CRELD1)
ENST00000682866.1:n.490_492del (CRELD1)
ENST00000682884.1:n.965_967del (CRELD1)
ENST00000682906.1:c.268_270del (CRELD1)	ENSP00000507674.1:p.Gly90del
ENST00000682907.1:c.471_473del (CRELD1)	ENSP00000508209.1:p.Gly158del
ENST00000682929.1:c.471_473del (CRELD1)	ENSP00000507930.1:p.Gly158del
ENST00000682967.1:n.656_658del (CRELD1)
ENST00000683061.1:n.2054_2056del
ENST00000683083.1:n.579_581del (CRELD1)
ENST00000683127.1:c.471_473del (CRELD1)	ENSP00000506906.1:p.Gly158del
ENST00000683189.1:c.471_473del (CRELD1)	ENSP00000508018.1:p.Gly158del
ENST00000683232.1:c.268_270del (CRELD1)	ENSP00000506842.1:p.Gly90del
ENST00000683239.1:n.601_603del (CRELD1)
ENST00000683279.1:n.550_552del (CRELD1)
ENST00000683301.1:c.268_270del (CRELD1)	ENSP00000507718.1:p.Gly90del
ENST00000683316.1:c.471_473del (CRELD1)	ENSP00000507076.1:p.Gly158del
ENST00000683388.1:n.2575_2577del (CRELD1)
ENST00000683467.1:n.693_695del (CRELD1)
ENST00000683484.1:c.*119_*121del	ENSP00000507040.1:n.*119_*121del
ENST00000683547.1:c.471_473del (CRELD1)	ENSP00000507258.1:p.Gly158del
ENST00000683601.1:c.471_473del (CRELD1)	ENSP00000507737.1:p.Gly158del
ENST00000683603.1:c.471_473del (CRELD1)	ENSP00000508016.1:p.Gly158del
ENST00000683736.1:c.350-251_350-249del (CRELD1)	ENSP00000507761.1:n.350-251_350-249del
ENST00000683835.1:c.471_473del (CRELD1)	ENSP00000508148.1:p.Gly158del
ENST00000683849.1:c.268_270del (CRELD1)	ENSP00000506901.1:p.Gly90del
ENST00000683888.1:n.1076_1078del (CRELD1)
ENST00000683891.1:c.379_381del (CRELD1)	ENSP00000506972.1:p.Gly127del
ENST00000683921.1:c.*525_*527del (CRELD1)	ENSP00000507395.1:n.*525_*527del
ENST00000683970.1:c.471_473del (CRELD1)	ENSP00000507906.1:p.Gly158del
ENST00000683982.1:c.471_473del (CRELD1)	ENSP00000507437.1:p.Gly158del
ENST00000684181.1:c.471_473del (CRELD1)	ENSP00000507522.1:p.Gly158del
ENST00000684212.1:c.471_473del (CRELD1)	ENSP00000507565.1:p.Gly158del
ENST00000684243.1:c.*137_*139del (CRELD1)	ENSP00000506959.1:n.*137_*139del
ENST00000684291.1:c.471_473del (CRELD1)	ENSP00000506927.1:p.Gly158del
ENST00000684318.1:c.471_473del (CRELD1)	ENSP00000508180.1:p.Gly158del
ENST00000684419.1:n.1053_1055del (CRELD1)
ENST00000684493.1:c.471_473del (CRELD1)	ENSP00000507127.1:p.Gly158del
ENST00000684526.1:c.379_381del (CRELD1)	ENSP00000508163.1:p.Gly127del
ENST00000684532.1:c.471_473del (CRELD1)	ENSP00000508212.1:p.Gly158del
ENST00000684601.1:c.471_473del (CRELD1)	ENSP00000507886.1:p.Gly158del
ENST00000684613.1:c.471_473del (CRELD1)	ENSP00000508218.1:p.Gly158del
ENST00000684629.1:c.268_270del (CRELD1)	ENSP00000506879.1:p.Gly90del
ENST00000684648.1:c.379_381del (CRELD1)	ENSP00000507931.1:p.Gly127del
ENST00000383811.8:c.471_473del (CRELD1)	ENSP00000373322.3:p.Gly158del
ENST00000452070.6:c.471_473del (CRELD1) MANE Select	ENSP00000393643.2:p.Gly158del
ENST00000673635.1:c.326_328del (CRELD1)	ENSP00000501186.1:n.326_328del
ENST00000673677.1:c.741_743del	ENSP00000500985.1:n.741_743del
ENST00000673737.1:c.471_473del (CRELD1)	ENSP00000501208.1:p.Gly158del
ENST00000674057.1:c.*137_*139del (CRELD1)	ENSP00000501128.1:n.*137_*139del
ENST00000674067.1:c.236_238del	ENSP00000501009.1:n.236_238del
ENST00000326434.9:c.471_473del (CRELD1)	ENSP00000321856.5:p.Gly158del
ENST00000383811.7:c.471_473del (CRELD1)	ENSP00000373322.3:p.Gly158del
ENST00000397170.7:c.471_473del (CRELD1)	ENSP00000380355.3:p.Gly158del
ENST00000414117.5:c.268_270del (CRELD1)	ENSP00000411021.1:p.Gly90del
ENST00000452070.5:c.471_473del (CRELD1)	ENSP00000393643.1:p.Gly158del
NM_001031717.3:c.471_473del (CRELD1)	NP_001026887.1:p.Gly158del
NM_001077415.2:c.471_473del (CRELD1)	NP_001070883.1:p.Gly158del
NM_015513.4:c.471_473del (CRELD1)	NP_056328.2:p.Gly158del
XM_011534108.1:c.471_473del (CRELD1)	XP_011532410.1:p.Gly158del
XR_002959584.1:n.555_557del (CRELD1)
NM_001031717.4:c.471_473del (CRELD1)	NP_001026887.2:p.Gly158del
NM_001077415.3:c.471_473del (CRELD1) MANE Select	NP_001070883.2:p.Gly158del
NM_001374316.1:c.471_473del (CRELD1)	NP_001361245.1:p.Gly158del
NM_001374317.1:c.471_473del (CRELD1)	NP_001361246.1:p.Gly158del
NM_001374318.1:c.471_473del (CRELD1)	NP_001361247.1:p.Gly158del
NM_001374319.1:c.471_473del (CRELD1)	NP_001361248.1:p.Gly158del
NM_001374320.1:c.471_473del (CRELD1)	NP_001361249.1:p.Gly158del
NM_015513.6:c.471_473del (CRELD1)	NP_056328.3:p.Gly158del
NR_164475.1:n.509_511del (CRELD1)
NR_164476.1:n.485_487del (CRELD1)
NR_164477.1:n.859_861del (CRELD1)