Canonical Allele Identifier: CA2676758971

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177608752-TGCATGGTCATCTAGCCAGTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608753_177608773del , CM000667.2:g.177608753_177608773del	GRCh38
NC_000005.9:g.177035754_177035774del , CM000667.1:g.177035754_177035774del	GRCh37
NC_000005.8:g.176968360_176968380del	NCBI36
NG_015977.1:g.13636_13656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+131_724-137del MANE Select	ENSP00000029410.5:n.723+131_724-137del
ENST00000029410.9:c.723+131_724-137del	ENSP00000029410.5:n.723+131_724-137del
ENST00000505145.1:n.1821+131_1822-137del
ENST00000505433.5:c.*229+131_*230-137del	ENSP00000425591.1:n.*229+131_*230-137del
ENST00000515353.1:n.1389_1409del
NM_007255.2:c.723+131_724-137del	NP_009186.1:n.723+131_724-137del
XM_005265805.2:c.381+131_382-137del	XP_005265862.1:n.381+131_382-137del
XM_006714816.2:c.243+131_244-137del	XP_006714879.1:n.243+131_244-137del
XM_011534421.1:c.381+131_382-137del	XP_011532723.1:n.381+131_382-137del
XM_006714816.4:c.243+131_244-137del	XP_006714879.1:n.243+131_244-137del
XM_017008999.2:c.381+131_382-137del	XP_016864488.1:n.381+131_382-137del
NM_007255.3:c.723+131_724-137del MANE Select	NP_009186.1:n.723+131_724-137del