Canonical Allele Identifier: CA2578500197

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177604490-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604496_177604498del , CM000667.2:g.177604496_177604498del	GRCh38
NC_000005.9:g.177031497_177031499del , CM000667.1:g.177031497_177031499del	GRCh37
NC_000005.8:g.176964103_176964105del	NCBI36
NG_015977.1:g.9379_9381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.368_370del MANE Select	ENSP00000029410.5:p.Lys123del
ENST00000029410.9:c.368_370del	ENSP00000029410.5:p.Lys123del
ENST00000502420.1:n.347_349del
ENST00000505433.5:c.368_370del	ENSP00000425591.1:p.Lys123del
ENST00000505468.1:c.26_28del	ENSP00000420886.1:p.Lys9del
ENST00000507061.1:c.185_187del	ENSP00000423868.1:p.Lys62del
ENST00000510761.1:c.26_28del	ENSP00000423438.1:p.Lys9del
NM_007255.2:c.368_370del	NP_009186.1:p.Lys123del
XM_005265805.2:c.26_28del	XP_005265862.1:p.Lys9del
XM_006714816.2:c.-132_-130del	XP_006714879.1:n.-132_-130del
XM_011534421.1:c.26_28del	XP_011532723.1:p.Lys9del
XM_006714816.4:c.-132_-130del	XP_006714879.1:n.-132_-130del
XM_017008999.2:c.26_28del	XP_016864488.1:p.Lys9del
NM_007255.3:c.368_370del MANE Select	NP_009186.1:p.Lys123del