Canonical Allele Identifier: CA564519666

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1357773391
• gnomAD v2: 5-177036192-ACC-A
• gnomAD v3: 5-177609191-ACC-A
• gnomAD v4: 5-177609191-ACC-A
• MyVariant Identifiers: chr5:g.177036193_177036194del (hg19) ; chr5:g.177609192_177609193del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609193_177609194del , CM000667.2:g.177609193_177609194del	GRCh38
NC_000005.9:g.177036194_177036195del , CM000667.1:g.177036194_177036195del	GRCh37
NC_000005.8:g.176968800_176968801del	NCBI36
NG_015977.1:g.14076_14077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.828+179_828+180del MANE Select	ENSP00000029410.5:n.828+179_828+180del
ENST00000029410.9:c.828+179_828+180del	ENSP00000029410.5:n.828+179_828+180del
ENST00000505145.1:n.1926+179_1926+180del
ENST00000505433.5:c.*334+179_*334+180del	ENSP00000425591.1:n.*334+179_*334+180del
ENST00000515353.1:n.1650+179_1650+180del
NM_007255.2:c.828+179_828+180del	NP_009186.1:n.828+179_828+180del
XM_005265805.2:c.486+179_486+180del	XP_005265862.1:n.486+179_486+180del
XM_006714816.2:c.348+179_348+180del	XP_006714879.1:n.348+179_348+180del
XM_011534421.1:c.486+179_486+180del	XP_011532723.1:n.486+179_486+180del
XM_006714816.4:c.348+179_348+180del	XP_006714879.1:n.348+179_348+180del
XM_017008999.2:c.486+179_486+180del	XP_016864488.1:n.486+179_486+180del
NM_007255.3:c.828+179_828+180del MANE Select	NP_009186.1:n.828+179_828+180del