Canonical Allele Identifier: CA2697404

Gene: MYNN

Linked Data

• dbSNP Id: rs758324643
• ExAC: 3:169502475 CACAAA / C
• gnomAD v2: 3-169502475-CACAAA-C
• gnomAD v3: 3-169784687-CACAAA-C
• gnomAD v4: 3-169784687-CACAAA-C
• MyVariant Identifiers: chr3:g.169502476_169502480del (hg19) ; chr3:g.169784688_169784692del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169784694_169784698del , CM000665.2:g.169784694_169784698del	GRCh38
NC_000003.11:g.169502482_169502486del , CM000665.1:g.169502482_169502486del	GRCh37
NC_000003.10:g.170985176_170985180del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349841.10:c.1556_1560del MANE Select	ENSP00000326240.4:p.Thr519SerfsTer7
ENST00000349841.9:c.1556_1560del	ENSP00000326240.4:p.Thr519SerfsTer7
ENST00000356716.8:c.1556_1560del	ENSP00000349150.3:p.Thr519SerfsTer7
ENST00000544106.5:c.1483+1134_1483+1138del	ENSP00000440637.1:n.1483+1134_1483+1138del
ENST00000602751.5:c.*1164_*1168del	ENSP00000473654.1:n.*1164_*1168del
NM_001185118.1:c.1556_1560del	NP_001172047.1:p.Thr519SerfsTer7
NM_001185119.1:c.1483+1134_1483+1138del	NP_001172048.1:n.1483+1134_1483+1138del
NM_018657.4:c.1556_1560del	NP_061127.1:p.Thr519SerfsTer7
NR_033702.1:n.1855_1859del
NR_033703.1:n.1869_1873del
XM_005247621.3:c.1472_1476del	XP_005247678.1:p.Thr491SerfsTer7
XM_005247622.3:c.1310_1314del	XP_005247679.1:p.Thr437SerfsTer7
XM_005247624.3:c.1214_1218del	XP_005247681.1:p.Thr405SerfsTer7
XM_011512987.1:c.1556_1560del	XP_011511289.1:p.Thr519SerfsTer7
XM_011512988.1:c.1556_1560del	XP_011511290.1:p.Thr519SerfsTer7
XM_005247621.5:c.1472_1476del	XP_005247678.1:p.Thr491SerfsTer7
XM_005247622.4:c.1310_1314del	XP_005247679.1:p.Thr437SerfsTer7
XM_005247624.4:c.1214_1218del	XP_005247681.1:p.Thr405SerfsTer7
XM_017006864.2:c.1556_1560del	XP_016862353.1:p.Thr519SerfsTer7
XM_017006865.2:c.1130_1134del	XP_016862354.1:p.Thr377SerfsTer7
XM_017006866.2:c.1130_1134del	XP_016862355.1:p.Thr377SerfsTer7
XM_017006867.2:c.737_741del	XP_016862356.1:p.Thr246SerfsTer7
XM_017006868.2:c.653_657del	XP_016862357.1:p.Thr218SerfsTer7
XR_002959552.1:n.3388_3392del
NM_001185118.2:c.1556_1560del	NP_001172047.1:p.Thr519SerfsTer7
NM_018657.5:c.1556_1560del MANE Select	NP_061127.1:p.Thr519SerfsTer7
NR_033702.2:n.1524_1528del
NR_033703.2:n.1538_1542del