Canonical Allele Identifier: CA132896501

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1024301942
• gnomAD v2: 5-177035733-TCCCTGCCCTAA-T
• gnomAD v3: 5-177608732-TCCCTGCCCTAA-T
• gnomAD v4: 5-177608732-TCCCTGCCCTAA-T
• MyVariant Identifiers: chr5:g.177035734_177035744del (hg19) ; chr5:g.177608733_177608743del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608742_177608752del , CM000667.2:g.177608742_177608752del	GRCh38
NC_000005.9:g.177035743_177035753del , CM000667.1:g.177035743_177035753del	GRCh37
NC_000005.8:g.176968349_176968359del	NCBI36
NG_015977.1:g.13625_13635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+120_723+130del MANE Select	ENSP00000029410.5:n.723+120_723+130del
ENST00000029410.9:c.723+120_723+130del	ENSP00000029410.5:n.723+120_723+130del
ENST00000505145.1:n.1821+120_1821+130del
ENST00000505433.5:c.*229+120_*229+130del	ENSP00000425591.1:n.*229+120_*229+130del
ENST00000515353.1:n.1378_1388del
NM_007255.2:c.723+120_723+130del	NP_009186.1:n.723+120_723+130del
XM_005265805.2:c.381+120_381+130del	XP_005265862.1:n.381+120_381+130del
XM_006714816.2:c.243+120_243+130del	XP_006714879.1:n.243+120_243+130del
XM_011534421.1:c.381+120_381+130del	XP_011532723.1:n.381+120_381+130del
XM_006714816.4:c.243+120_243+130del	XP_006714879.1:n.243+120_243+130del
XM_017008999.2:c.381+120_381+130del	XP_016864488.1:n.381+120_381+130del
NM_007255.3:c.723+120_723+130del MANE Select	NP_009186.1:n.723+120_723+130del