Canonical Allele Identifier: CA645554560

Gene: B4GALT7

Linked Data

• dbSNP Id: rs879255634
• gnomAD v3: 5-177604400-GC-G
• gnomAD v4: 5-177604400-GC-G
• COSMIC: COSM5079079
• MyVariant Identifiers: chr5:g.177031402del (hg19) ; chr5:g.177604401del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604405del , CM000667.2:g.177604405del	GRCh38
NC_000005.9:g.177031406del , CM000667.1:g.177031406del	GRCh37
NC_000005.8:g.176964012del	NCBI36
NG_015977.1:g.9288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.277del MANE Select	ENSP00000029410.5:p.His93ThrfsTer27
ENST00000029410.9:c.277del	ENSP00000029410.5:p.His93ThrfsTer27
ENST00000502420.1:n.256del
ENST00000505433.5:c.277del	ENSP00000425591.1:p.His93ThrfsTer27
ENST00000505468.1:c.-66del	ENSP00000420886.1:n.-66del
ENST00000507061.1:c.94del	ENSP00000423868.1:p.His32ThrfsTer27
ENST00000510761.1:c.-66del	ENSP00000423438.1:n.-66del
NM_007255.2:c.277del	NP_009186.1:p.His93ThrfsTer27
XM_005265805.2:c.-66del	XP_005265862.1:n.-66del
XM_006714816.2:c.-223del	XP_006714879.1:n.-223del
XM_011534421.1:c.-66del	XP_011532723.1:n.-66del
XM_006714816.4:c.-223del	XP_006714879.1:n.-223del
XM_017008999.2:c.-66del	XP_016864488.1:n.-66del
NM_007255.3:c.277del MANE Select	NP_009186.1:p.His93ThrfsTer27