Canonical Allele Identifier: CA2606576320

Gene: B4GALT7

Linked Data

• dbSNP Id: rs2127511853
• gnomAD v3: 5-177604624-AG-A
• gnomAD v4: 5-177604624-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604628del , CM000667.2:g.177604628del	GRCh38
NC_000005.9:g.177031629del , CM000667.1:g.177031629del	GRCh37
NC_000005.8:g.176964235del	NCBI36
NG_015977.1:g.9511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.413+87del MANE Select	ENSP00000029410.5:n.413+87del
ENST00000029410.9:c.413+87del	ENSP00000029410.5:n.413+87del
ENST00000502420.1:n.392+87del
ENST00000505433.5:c.413+87del	ENSP00000425591.1:n.413+87del
ENST00000505468.1:c.71+87del	ENSP00000420886.1:n.71+87del
ENST00000507061.1:c.230+87del	ENSP00000423868.1:n.230+87del
ENST00000510761.1:c.71+87del	ENSP00000423438.1:n.71+87del
NM_007255.2:c.413+87del	NP_009186.1:n.413+87del
XM_005265805.2:c.71+87del	XP_005265862.1:n.71+87del
XM_006714816.2:c.-87+87del	XP_006714879.1:n.-87+87del
XM_011534421.1:c.71+87del	XP_011532723.1:n.71+87del
XM_006714816.4:c.-87+87del	XP_006714879.1:n.-87+87del
XM_017008999.2:c.71+87del	XP_016864488.1:n.71+87del
NM_007255.3:c.413+87del MANE Select	NP_009186.1:n.413+87del