Canonical Allele Identifier: CA2676758855

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177608668-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608669_177608670del , CM000667.2:g.177608669_177608670del	GRCh38
NC_000005.9:g.177035670_177035671del , CM000667.1:g.177035670_177035671del	GRCh37
NC_000005.8:g.176968276_176968277del	NCBI36
NG_015977.1:g.13552_13553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+47_723+48del MANE Select	ENSP00000029410.5:n.723+47_723+48del
ENST00000029410.9:c.723+47_723+48del	ENSP00000029410.5:n.723+47_723+48del
ENST00000505145.1:n.1821+47_1821+48del
ENST00000505433.5:c.*229+47_*229+48del	ENSP00000425591.1:n.*229+47_*229+48del
ENST00000515353.1:n.1305_1306del
NM_007255.2:c.723+47_723+48del	NP_009186.1:n.723+47_723+48del
XM_005265805.2:c.381+47_381+48del	XP_005265862.1:n.381+47_381+48del
XM_006714816.2:c.243+47_243+48del	XP_006714879.1:n.243+47_243+48del
XM_011534421.1:c.381+47_381+48del	XP_011532723.1:n.381+47_381+48del
XM_006714816.4:c.243+47_243+48del	XP_006714879.1:n.243+47_243+48del
XM_017008999.2:c.381+47_381+48del	XP_016864488.1:n.381+47_381+48del
NM_007255.3:c.723+47_723+48del MANE Select	NP_009186.1:n.723+47_723+48del