Canonical Allele Identifier: CA1084834757

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1768091781
• gnomAD v3: 5-177608793-TCTC-T
• gnomAD v4: 5-177608793-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608797_177608799del , CM000667.2:g.177608797_177608799del	GRCh38
NC_000005.9:g.177035798_177035800del , CM000667.1:g.177035798_177035800del	GRCh37
NC_000005.8:g.176968404_176968406del	NCBI36
NG_015977.1:g.13680_13682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.724-113_724-111del MANE Select	ENSP00000029410.5:n.724-113_724-111del
ENST00000029410.9:c.724-113_724-111del	ENSP00000029410.5:n.724-113_724-111del
ENST00000505145.1:n.1822-113_1822-111del
ENST00000505433.5:c.*230-113_*230-111del	ENSP00000425591.1:n.*230-113_*230-111del
ENST00000515353.1:n.1433_1435del
NM_007255.2:c.724-113_724-111del	NP_009186.1:n.724-113_724-111del
XM_005265805.2:c.382-113_382-111del	XP_005265862.1:n.382-113_382-111del
XM_006714816.2:c.244-113_244-111del	XP_006714879.1:n.244-113_244-111del
XM_011534421.1:c.382-113_382-111del	XP_011532723.1:n.382-113_382-111del
XM_006714816.4:c.244-113_244-111del	XP_006714879.1:n.244-113_244-111del
XM_017008999.2:c.382-113_382-111del	XP_016864488.1:n.382-113_382-111del
NM_007255.3:c.724-113_724-111del MANE Select	NP_009186.1:n.724-113_724-111del