Canonical Allele Identifier: CA2389469056
Gene: B3GALT5 HGNC NCBI
IGSF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.39649663_39649664delinsAG , CM000683.2:g.39649663_39649664delinsAG GRCh38
NC_000021.8:g.41021590_41021591delinsAG , CM000683.1:g.41021590_41021591delinsAG GRCh37
NC_000021.7:g.39943460_39943461delinsAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343118.6:c.-161+7187_-161+7188delinsAG (B3GALT5) ENSP00000343318.4:n.-161+7187_-161+7188delinsAG
ENST00000398714.4:c.-160-10090_-160-10089delinsAG (B3GALT5) ENSP00000381699.4:n.-160-10090_-160-10089delinsAG
ENST00000615480.5:c.-160-10090_-160-10089delinsAG (B3GALT5) ENSP00000480285.1:n.-160-10090_-160-10089delinsAG
ENST00000682542.1:c.-161+3041_-161+3042delinsAG (B3GALT5) ENSP00000507453.1:n.-161+3041_-161+3042delinsAG
ENST00000682818.1:n.333+3041_333+3042delinsAG (B3GALT5)
ENST00000683344.1:c.-161+3041_-161+3042delinsAG (B3GALT5) ENSP00000508165.1:n.-161+3041_-161+3042delinsAG
ENST00000684187.2:c.-161+3041_-161+3042delinsAG (B3GALT5) MANE Select ENSP00000506797.1:n.-161+3041_-161+3042delinsAG
ENST00000684495.1:c.-161+3041_-161+3042delinsAG (B3GALT5) ENSP00000507285.1:n.-161+3041_-161+3042delinsAG
ENST00000380620.8:c.-161+3041_-161+3042delinsAG (B3GALT5) ENSP00000369994.3:n.-161+3041_-161+3042delinsAG
ENST00000615480.4:c.-160-10090_-160-10089delinsAG (B3GALT5) ENSP00000480285.1:n.-160-10090_-160-10089delinsAG
NM_001278650.1:c.-160-10090_-160-10089delinsAG (B3GALT5) NP_001265579.1:n.-160-10090_-160-10089delinsAG
XR_937730.1:n.368-2911_368-2910delinsAG
XR_937731.1:n.369-1250_369-1249delinsAG
XR_937732.1:n.369-2914_369-2913delinsAG
NM_001356336.1:c.-161+3041_-161+3042delinsAG (B3GALT5) NP_001343265.1:n.-161+3041_-161+3042delinsAG
NM_001356338.1:c.-161+3041_-161+3042delinsAG (B3GALT5) NP_001343267.1:n.-161+3041_-161+3042delinsAG
NM_001356339.1:c.-161+7187_-161+7188delinsAG (B3GALT5) NP_001343268.1:n.-161+7187_-161+7188delinsAG
XM_011529472.2:c.-1107+17153_-1107+17154delinsAG (IGSF5) XP_011527774.1:n.-1107+17153_-1107+17154delinsAG
NM_001356336.2:c.-161+3041_-161+3042delinsAG (B3GALT5) MANE Select NP_001343265.1:n.-161+3041_-161+3042delinsAG
NM_001356338.2:c.-161+3041_-161+3042delinsAG (B3GALT5) NP_001343267.1:n.-161+3041_-161+3042delinsAG
NM_001356339.2:c.-161+7187_-161+7188delinsAG (B3GALT5) NP_001343268.1:n.-161+7187_-161+7188delinsAG
NM_001278650.2:c.-160-10090_-160-10089delinsAG (B3GALT5) NP_001265579.1:n.-160-10090_-160-10089delinsAG