Canonical Allele Identifier: CA2573139480

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 1580177
• ClinVar RCV Id: RCV003891349
• dbSNP Id: rs2127514102

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608889_177608891del , CM000667.2:g.177608889_177608891del	GRCh38
NC_000005.9:g.177035890_177035892del , CM000667.1:g.177035890_177035892del	GRCh37
NC_000005.8:g.176968496_176968498del	NCBI36
NG_015977.1:g.13772_13774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.724-21_724-19del MANE Select	ENSP00000029410.5:n.724-21_724-19del
ENST00000029410.9:c.724-21_724-19del	ENSP00000029410.5:n.724-21_724-19del
ENST00000505145.1:n.1822-21_1822-19del
ENST00000505433.5:c.*230-21_*230-19del	ENSP00000425591.1:n.*230-21_*230-19del
ENST00000515353.1:n.1525_1527del
NM_007255.2:c.724-21_724-19del	NP_009186.1:n.724-21_724-19del
XM_005265805.2:c.382-21_382-19del	XP_005265862.1:n.382-21_382-19del
XM_006714816.2:c.244-21_244-19del	XP_006714879.1:n.244-21_244-19del
XM_011534421.1:c.382-21_382-19del	XP_011532723.1:n.382-21_382-19del
XM_006714816.4:c.244-21_244-19del	XP_006714879.1:n.244-21_244-19del
XM_017008999.2:c.382-21_382-19del	XP_016864488.1:n.382-21_382-19del
NM_007255.3:c.724-21_724-19del MANE Select	NP_009186.1:n.724-21_724-19del