Canonical Allele Identifier: CA808137084

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1271147704
• gnomAD v3: 5-177608789-CCA-C
• gnomAD v4: 5-177608789-CCA-C
• MyVariant Identifiers: chr5:g.177035791_177035792del (hg19) ; chr5:g.177608790_177608791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608790_177608791del , CM000667.2:g.177608790_177608791del	GRCh38
NC_000005.9:g.177035791_177035792del , CM000667.1:g.177035791_177035792del	GRCh37
NC_000005.8:g.176968397_176968398del	NCBI36
NG_015977.1:g.13673_13674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.724-120_724-119del MANE Select	ENSP00000029410.5:n.724-120_724-119del
ENST00000029410.9:c.724-120_724-119del	ENSP00000029410.5:n.724-120_724-119del
ENST00000505145.1:n.1822-120_1822-119del
ENST00000505433.5:c.*230-120_*230-119del	ENSP00000425591.1:n.*230-120_*230-119del
ENST00000515353.1:n.1426_1427del
NM_007255.2:c.724-120_724-119del	NP_009186.1:n.724-120_724-119del
XM_005265805.2:c.382-120_382-119del	XP_005265862.1:n.382-120_382-119del
XM_006714816.2:c.244-120_244-119del	XP_006714879.1:n.244-120_244-119del
XM_011534421.1:c.382-120_382-119del	XP_011532723.1:n.382-120_382-119del
XM_006714816.4:c.244-120_244-119del	XP_006714879.1:n.244-120_244-119del
XM_017008999.2:c.382-120_382-119del	XP_016864488.1:n.382-120_382-119del
NM_007255.3:c.724-120_724-119del MANE Select	NP_009186.1:n.724-120_724-119del