Canonical Allele Identifier: CA808137539

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1217037506
• gnomAD v3: 5-177609194-CTGGGCACTG-C
• gnomAD v4: 5-177609194-CTGGGCACTG-C
• MyVariant Identifiers: chr5:g.177036196_177036204del (hg19) ; chr5:g.177609195_177609203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609199_177609207del , CM000667.2:g.177609199_177609207del	GRCh38
NC_000005.9:g.177036200_177036208del , CM000667.1:g.177036200_177036208del	GRCh37
NC_000005.8:g.176968806_176968814del	NCBI36
NG_015977.1:g.14082_14090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.828+185_828+193del MANE Select	ENSP00000029410.5:n.828+185_828+193del
ENST00000029410.9:c.828+185_828+193del	ENSP00000029410.5:n.828+185_828+193del
ENST00000505145.1:n.1926+185_1926+193del
ENST00000505433.5:c.*334+185_*334+193del	ENSP00000425591.1:n.*334+185_*334+193del
ENST00000515353.1:n.1650+185_1650+193del
NM_007255.2:c.828+185_828+193del	NP_009186.1:n.828+185_828+193del
XM_005265805.2:c.486+185_486+193del	XP_005265862.1:n.486+185_486+193del
XM_006714816.2:c.348+185_348+193del	XP_006714879.1:n.348+185_348+193del
XM_011534421.1:c.486+185_486+193del	XP_011532723.1:n.486+185_486+193del
XM_006714816.4:c.348+185_348+193del	XP_006714879.1:n.348+185_348+193del
XM_017008999.2:c.486+185_486+193del	XP_016864488.1:n.486+185_486+193del
NM_007255.3:c.828+185_828+193del MANE Select	NP_009186.1:n.828+185_828+193del