Canonical Allele Identifier: CA749314418

Gene: B3GALT5 IGSF5

Linked Data

• dbSNP Id: rs1234220101
• gnomAD v3: 21-39649818-C-CAGAT
• gnomAD v4: 21-39649818-C-CAGAT
• MyVariant Identifiers: chr21:g.41021745_41021746insAGAT (hg19) ; chr21:g.39649818_39649819insAGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.39649821_39649824dup , CM000683.2:g.39649821_39649824dup	GRCh38
NC_000021.8:g.41021748_41021751dup , CM000683.1:g.41021748_41021751dup	GRCh37
NC_000021.7:g.39943618_39943621dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343118.6:c.-161+7345_-161+7348dup (B3GALT5)	ENSP00000343318.4:n.-161+7345_-161+7348dup
ENST00000398714.4:c.-160-9932_-160-9929dup (B3GALT5)	ENSP00000381699.4:n.-160-9932_-160-9929dup
ENST00000615480.5:c.-160-9932_-160-9929dup (B3GALT5)	ENSP00000480285.1:n.-160-9932_-160-9929dup
ENST00000682542.1:c.-161+3199_-161+3202dup (B3GALT5)	ENSP00000507453.1:n.-161+3199_-161+3202dup
ENST00000682818.1:n.333+3199_333+3202dup (B3GALT5)
ENST00000683344.1:c.-161+3199_-161+3202dup (B3GALT5)	ENSP00000508165.1:n.-161+3199_-161+3202dup
ENST00000684187.2:c.-161+3199_-161+3202dup (B3GALT5) MANE Select	ENSP00000506797.1:n.-161+3199_-161+3202dup
ENST00000684495.1:c.-161+3199_-161+3202dup (B3GALT5)	ENSP00000507285.1:n.-161+3199_-161+3202dup
ENST00000380620.8:c.-161+3199_-161+3202dup (B3GALT5)	ENSP00000369994.3:n.-161+3199_-161+3202dup
ENST00000615480.4:c.-160-9932_-160-9929dup (B3GALT5)	ENSP00000480285.1:n.-160-9932_-160-9929dup
NM_001278650.1:c.-160-9932_-160-9929dup (B3GALT5)	NP_001265579.1:n.-160-9932_-160-9929dup
XR_937730.1:n.368-2753_368-2750dup
XR_937731.1:n.369-1092_369-1089dup
XR_937732.1:n.369-2756_369-2753dup
NM_001356336.1:c.-161+3199_-161+3202dup (B3GALT5)	NP_001343265.1:n.-161+3199_-161+3202dup
NM_001356338.1:c.-161+3199_-161+3202dup (B3GALT5)	NP_001343267.1:n.-161+3199_-161+3202dup
NM_001356339.1:c.-161+7345_-161+7348dup (B3GALT5)	NP_001343268.1:n.-161+7345_-161+7348dup
XM_011529472.2:c.-1107+17311_-1107+17314dup (IGSF5)	XP_011527774.1:n.-1107+17311_-1107+17314dup
NM_001356336.2:c.-161+3199_-161+3202dup (B3GALT5) MANE Select	NP_001343265.1:n.-161+3199_-161+3202dup
NM_001356338.2:c.-161+3199_-161+3202dup (B3GALT5)	NP_001343267.1:n.-161+3199_-161+3202dup
NM_001356339.2:c.-161+7345_-161+7348dup (B3GALT5)	NP_001343268.1:n.-161+7345_-161+7348dup
NM_001278650.2:c.-160-9932_-160-9929dup (B3GALT5)	NP_001265579.1:n.-160-9932_-160-9929dup