Canonical Allele Identifier: CA767473575

Gene: PLB1

Linked Data

• dbSNP Id: rs1268749723
• gnomAD v3: 2-28615575-CCT-C
• gnomAD v4: 2-28615575-CCT-C
• MyVariant Identifiers: chr2:g.28838443_28838444del (hg19) ; chr2:g.28615576_28615577del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.28615580_28615581del , CM000664.2:g.28615580_28615581del	GRCh38
NC_000002.11:g.28838447_28838448del , CM000664.1:g.28838447_28838448del	GRCh37
NC_000002.10:g.28691951_28691952del	NCBI36
NG_051297.1:g.132002_132003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327757.10:c.3195+1484_3195+1485del MANE Select	ENSP00000330442.5:n.3195+1484_3195+1485del
ENST00000327757.9:c.3195+1484_3195+1485del	ENSP00000330442.5:n.3195+1484_3195+1485del
ENST00000404858.5:c.3158+1484_3158+1485del
ENST00000411743.5:c.285+1484_285+1485del
ENST00000422425.6:c.3162+1484_3162+1485del	ENSP00000416440.2:n.3162+1484_3162+1485del
ENST00000444257.5:c.267+1484_267+1485del	ENSP00000391810.1:n.267+1484_267+1485del
ENST00000479065.5:n.317+1484_317+1485del
NM_001170585.1:c.3162+1484_3162+1485del	NP_001164056.1:n.3162+1484_3162+1485del
NM_153021.4:c.3195+1484_3195+1485del	NP_694566.4:n.3195+1484_3195+1485del
XM_011532579.1:c.3255+1484_3255+1485del	XP_011530881.1:n.3255+1484_3255+1485del
XM_011532580.1:c.3228+1484_3228+1485del	XP_011530882.1:n.3228+1484_3228+1485del
XM_011532581.1:c.3222+1484_3222+1485del	XP_011530883.1:n.3222+1484_3222+1485del
XM_011532582.1:c.3255+1484_3255+1485del	XP_011530884.1:n.3255+1484_3255+1485del
XM_011532583.1:c.3255+1484_3255+1485del	XP_011530885.1:n.3255+1484_3255+1485del
XM_011532584.1:c.3255+1484_3255+1485del	XP_011530886.1:n.3255+1484_3255+1485del
XM_011532585.1:c.3255+1484_3255+1485del	XP_011530887.1:n.3255+1484_3255+1485del
XM_011532586.1:c.3159+1484_3159+1485del	XP_011530888.1:n.3159+1484_3159+1485del
XM_011532587.1:c.3255+1484_3255+1485del	XP_011530889.1:n.3255+1484_3255+1485del
XM_011532588.1:c.3255+1484_3255+1485del	XP_011530890.1:n.3255+1484_3255+1485del
XM_011532589.1:c.3255+1484_3255+1485del	XP_011530891.1:n.3255+1484_3255+1485del
XM_011532590.1:c.3255+1484_3255+1485del	XP_011530892.1:n.3255+1484_3255+1485del
XM_011532591.1:c.3255+1484_3255+1485del	XP_011530893.1:n.3255+1484_3255+1485del
XM_011532592.1:c.3072+1484_3072+1485del	XP_011530894.1:n.3072+1484_3072+1485del
XM_011532593.1:c.3075+1484_3075+1485del	XP_011530895.1:n.3075+1484_3075+1485del
XM_011532594.1:c.3255+1484_3255+1485del	XP_011530896.1:n.3255+1484_3255+1485del
XM_011532595.1:c.3255+1484_3255+1485del	XP_011530897.1:n.3255+1484_3255+1485del
XM_011532596.1:c.3255+1484_3255+1485del	XP_011530898.1:n.3255+1484_3255+1485del
XM_011532597.1:c.3255+1484_3255+1485del	XP_011530899.1:n.3255+1484_3255+1485del
XM_011532598.1:c.3255+1484_3255+1485del	XP_011530900.1:n.3255+1484_3255+1485del
XM_011532599.1:c.3255+1484_3255+1485del	XP_011530901.1:n.3255+1484_3255+1485del
XM_011532600.1:c.2451+1484_2451+1485del	XP_011530902.1:n.2451+1484_2451+1485del
XM_011532601.1:c.2310+1484_2310+1485del	XP_011530903.1:n.2310+1484_2310+1485del
XM_011532602.1:c.2259+1484_2259+1485del	XP_011530904.1:n.2259+1484_2259+1485del
XM_011532603.1:c.2259+1484_2259+1485del	XP_011530905.1:n.2259+1484_2259+1485del
XM_011532605.1:c.2259+1484_2259+1485del	XP_011530907.1:n.2259+1484_2259+1485del
XM_011532609.1:c.1491+1484_1491+1485del	XP_011530911.1:n.1491+1484_1491+1485del
XM_011532610.1:c.1491+1484_1491+1485del	XP_011530912.1:n.1491+1484_1491+1485del
XR_939661.1:n.3363+1484_3363+1485del
XR_939662.1:n.3363+1484_3363+1485del
XR_939663.1:n.3363+1484_3363+1485del
XR_939664.1:n.3363+1484_3363+1485del
XR_939665.1:n.3281+1484_3281+1485del
XR_939666.1:n.3176+1484_3176+1485del
XR_939667.1:n.3080+1484_3080+1485del
NR_138141.1:n.2101+1484_2101+1485del
XM_011532579.2:c.3255+1484_3255+1485del	XP_011530881.1:n.3255+1484_3255+1485del
XM_011532581.3:c.3222+1484_3222+1485del	XP_011530883.1:n.3222+1484_3222+1485del
XM_011532584.3:c.3255+1484_3255+1485del	XP_011530886.1:n.3255+1484_3255+1485del
XM_011532588.2:c.3255+1484_3255+1485del	XP_011530890.1:n.3255+1484_3255+1485del
XM_011532589.2:c.3255+1484_3255+1485del	XP_011530891.1:n.3255+1484_3255+1485del
XM_011532590.2:c.3255+1484_3255+1485del	XP_011530892.1:n.3255+1484_3255+1485del
XM_011532591.3:c.3255+1484_3255+1485del	XP_011530893.1:n.3255+1484_3255+1485del
XM_011532593.2:c.3075+1484_3075+1485del	XP_011530895.1:n.3075+1484_3075+1485del
XM_011532601.3:c.2310+1484_2310+1485del	XP_011530903.1:n.2310+1484_2310+1485del
XM_011532602.2:c.2259+1484_2259+1485del	XP_011530904.1:n.2259+1484_2259+1485del
XM_011532603.2:c.2259+1484_2259+1485del	XP_011530905.1:n.2259+1484_2259+1485del
XM_011532609.2:c.1491+1484_1491+1485del	XP_011530911.1:n.1491+1484_1491+1485del
XM_011532610.2:c.1491+1484_1491+1485del	XP_011530912.1:n.1491+1484_1491+1485del
XM_017003432.2:c.3228+1484_3228+1485del	XP_016858921.1:n.3228+1484_3228+1485del
XM_017003433.2:c.3195+1484_3195+1485del	XP_016858922.1:n.3195+1484_3195+1485del
XM_017003434.1:c.3255+1484_3255+1485del	XP_016858923.1:n.3255+1484_3255+1485del
XR_001738646.2:n.3557+1484_3557+1485del
XR_001738647.2:n.3282+1484_3282+1485del
XR_939663.3:n.3553+1484_3553+1485del
NM_153021.5:c.3195+1484_3195+1485del MANE Select	NP_694566.4:n.3195+1484_3195+1485del
NM_001170585.2:c.3162+1484_3162+1485del	NP_001164056.1:n.3162+1484_3162+1485del
NR_138141.2:n.2101+1484_2101+1485del