Canonical Allele Identifier: CA1084834763

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1768091894
• gnomAD v3: 5-177608796-CCT-C
• gnomAD v4: 5-177608796-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608800_177608801del , CM000667.2:g.177608800_177608801del	GRCh38
NC_000005.9:g.177035801_177035802del , CM000667.1:g.177035801_177035802del	GRCh37
NC_000005.8:g.176968407_176968408del	NCBI36
NG_015977.1:g.13683_13684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.724-110_724-109del MANE Select	ENSP00000029410.5:n.724-110_724-109del
ENST00000029410.9:c.724-110_724-109del	ENSP00000029410.5:n.724-110_724-109del
ENST00000505145.1:n.1822-110_1822-109del
ENST00000505433.5:c.*230-110_*230-109del	ENSP00000425591.1:n.*230-110_*230-109del
ENST00000515353.1:n.1436_1437del
NM_007255.2:c.724-110_724-109del	NP_009186.1:n.724-110_724-109del
XM_005265805.2:c.382-110_382-109del	XP_005265862.1:n.382-110_382-109del
XM_006714816.2:c.244-110_244-109del	XP_006714879.1:n.244-110_244-109del
XM_011534421.1:c.382-110_382-109del	XP_011532723.1:n.382-110_382-109del
XM_006714816.4:c.244-110_244-109del	XP_006714879.1:n.244-110_244-109del
XM_017008999.2:c.382-110_382-109del	XP_016864488.1:n.382-110_382-109del
NM_007255.3:c.724-110_724-109del MANE Select	NP_009186.1:n.724-110_724-109del