Canonical Allele Identifier: CA2389469121
Gene: B3GALT5 HGNC NCBI
IGSF5 HGNC NCBI

Linked Data

dbSNP Id: rs2079377583

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.39649813_39649814insGATGGTGTG , CM000683.2:g.39649813_39649814insGATGGTGTG GRCh38
NC_000021.8:g.41021740_41021741insGATGGTGTG , CM000683.1:g.41021740_41021741insGATGGTGTG GRCh37
NC_000021.7:g.39943610_39943611insGATGGTGTG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000343118.6:c.-161+7337_-161+7338insGATGGTGTG (B3GALT5) ENSP00000343318.4:n.-161+7337_-161+7338in...
ENST00000398714.4:c.-160-9940_-160-9939insGATGGTGTG (B3GALT5) ENSP00000381699.4:n.-160-9940_-160-9939in...
ENST00000615480.5:c.-160-9940_-160-9939insGATGGTGTG (B3GALT5) ENSP00000480285.1:n.-160-9940_-160-9939in...
ENST00000682542.1:c.-161+3191_-161+3192insGATGGTGTG (B3GALT5) ENSP00000507453.1:n.-161+3191_-161+3192in...
ENST00000682818.1:n.333+3191_333+3192insGATGGTGTG (B3GALT5)
ENST00000683344.1:c.-161+3191_-161+3192insGATGGTGTG (B3GALT5) ENSP00000508165.1:n.-161+3191_-161+3192in...
ENST00000684187.2:c.-161+3191_-161+3192insGATGGTGTG (B3GALT5) MANE Select ENSP00000506797.1:n.-161+3191_-161+3192in...
ENST00000684495.1:c.-161+3191_-161+3192insGATGGTGTG (B3GALT5) ENSP00000507285.1:n.-161+3191_-161+3192in...
ENST00000380620.8:c.-161+3191_-161+3192insGATGGTGTG (B3GALT5) ENSP00000369994.3:n.-161+3191_-161+3192in...
ENST00000615480.4:c.-160-9940_-160-9939insGATGGTGTG (B3GALT5) ENSP00000480285.1:n.-160-9940_-160-9939in...
NM_001278650.1:c.-160-9940_-160-9939insGATGGTGTG (B3GALT5) NP_001265579.1:n.-160-9940_-160-9939insGA...
XR_937730.1:n.368-2761_368-2760insGATGGTGTG
XR_937731.1:n.369-1100_369-1099insGATGGTGTG
XR_937732.1:n.369-2764_369-2763insGATGGTGTG
NM_001356336.1:c.-161+3191_-161+3192insGATGGTGTG (B3GALT5) NP_001343265.1:n.-161+3191_-161+3192insGA...
NM_001356338.1:c.-161+3191_-161+3192insGATGGTGTG (B3GALT5) NP_001343267.1:n.-161+3191_-161+3192insGA...
NM_001356339.1:c.-161+7337_-161+7338insGATGGTGTG (B3GALT5) NP_001343268.1:n.-161+7337_-161+7338insGA...
XM_011529472.2:c.-1107+17303_-1107+17304insGATGGTGTG (IGSF5) XP_011527774.1:n.-1107+17303_-1107+17304i...
NM_001356336.2:c.-161+3191_-161+3192insGATGGTGTG (B3GALT5) MANE Select NP_001343265.1:n.-161+3191_-161+3192insGA...
NM_001356338.2:c.-161+3191_-161+3192insGATGGTGTG (B3GALT5) NP_001343267.1:n.-161+3191_-161+3192insGA...
NM_001356339.2:c.-161+7337_-161+7338insGATGGTGTG (B3GALT5) NP_001343268.1:n.-161+7337_-161+7338insGA...
NM_001278650.2:c.-160-9940_-160-9939insGATGGTGTG (B3GALT5) NP_001265579.1:n.-160-9940_-160-9939insGA...