Canonical Allele Identifier: CA2676759780

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177609093-CCTTGGCCCAAATGGTCCCATCCTCCCCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609103_177609131del , CM000667.2:g.177609103_177609131del	GRCh38
NC_000005.9:g.177036104_177036132del , CM000667.1:g.177036104_177036132del	GRCh37
NC_000005.8:g.176968710_176968738del	NCBI36
NG_015977.1:g.13986_14014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.828+89_828+117del MANE Select	ENSP00000029410.5:n.828+89_828+117del
ENST00000029410.9:c.828+89_828+117del	ENSP00000029410.5:n.828+89_828+117del
ENST00000505145.1:n.1926+89_1926+117del
ENST00000505433.5:c.*334+89_*334+117del	ENSP00000425591.1:n.*334+89_*334+117del
ENST00000515353.1:n.1650+89_1650+117del
NM_007255.2:c.828+89_828+117del	NP_009186.1:n.828+89_828+117del
XM_005265805.2:c.486+89_486+117del	XP_005265862.1:n.486+89_486+117del
XM_006714816.2:c.348+89_348+117del	XP_006714879.1:n.348+89_348+117del
XM_011534421.1:c.486+89_486+117del	XP_011532723.1:n.486+89_486+117del
XM_006714816.4:c.348+89_348+117del	XP_006714879.1:n.348+89_348+117del
XM_017008999.2:c.486+89_486+117del	XP_016864488.1:n.486+89_486+117del
NM_007255.3:c.828+89_828+117del MANE Select	NP_009186.1:n.828+89_828+117del