Canonical Allele Identifier: CA320954376

Gene: B3GALT5 IGSF5

Linked Data

• dbSNP Id: rs906714402
• gnomAD v2: 21-41021583-AG-A
• gnomAD v3: 21-39649656-AG-A
• gnomAD v4: 21-39649656-AG-A
• MyVariant Identifiers: chr21:g.41021584del (hg19) ; chr21:g.39649657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.39649660del , CM000683.2:g.39649660del	GRCh38
NC_000021.8:g.41021587del , CM000683.1:g.41021587del	GRCh37
NC_000021.7:g.39943457del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000343118.6:c.-161+7184del (B3GALT5)	ENSP00000343318.4:n.-161+7184del
ENST00000398714.4:c.-160-10093del (B3GALT5)	ENSP00000381699.4:n.-160-10093del
ENST00000615480.5:c.-160-10093del (B3GALT5)	ENSP00000480285.1:n.-160-10093del
ENST00000682542.1:c.-161+3038del (B3GALT5)	ENSP00000507453.1:n.-161+3038del
ENST00000682818.1:n.333+3038del (B3GALT5)
ENST00000683344.1:c.-161+3038del (B3GALT5)	ENSP00000508165.1:n.-161+3038del
ENST00000684187.2:c.-161+3038del (B3GALT5) MANE Select	ENSP00000506797.1:n.-161+3038del
ENST00000684495.1:c.-161+3038del (B3GALT5)	ENSP00000507285.1:n.-161+3038del
ENST00000380620.8:c.-161+3038del (B3GALT5)	ENSP00000369994.3:n.-161+3038del
ENST00000615480.4:c.-160-10093del (B3GALT5)	ENSP00000480285.1:n.-160-10093del
NM_001278650.1:c.-160-10093del (B3GALT5)	NP_001265579.1:n.-160-10093del
XR_937730.1:n.368-2914del
XR_937731.1:n.369-1253del
XR_937732.1:n.369-2917del
NM_001356336.1:c.-161+3038del (B3GALT5)	NP_001343265.1:n.-161+3038del
NM_001356338.1:c.-161+3038del (B3GALT5)	NP_001343267.1:n.-161+3038del
NM_001356339.1:c.-161+7184del (B3GALT5)	NP_001343268.1:n.-161+7184del
XM_011529472.2:c.-1107+17150del (IGSF5)	XP_011527774.1:n.-1107+17150del
NM_001356336.2:c.-161+3038del (B3GALT5) MANE Select	NP_001343265.1:n.-161+3038del
NM_001356338.2:c.-161+3038del (B3GALT5)	NP_001343267.1:n.-161+3038del
NM_001356339.2:c.-161+7184del (B3GALT5)	NP_001343268.1:n.-161+7184del
NM_001278650.2:c.-160-10093del (B3GALT5)	NP_001265579.1:n.-160-10093del