Canonical Allele Identifier: CA3586661

Gene: B4GALT7

Linked Data

• dbSNP Id: rs766465508
• ExAC: 5:177035675 ATTTTCTTCTGTTTCC / A
• gnomAD v2: 5-177035675-ATTTTCTTCTGTTTCC-A
• gnomAD v3: 5-177608674-ATTTTCTTCTGTTTCC-A
• gnomAD v4: 5-177608674-ATTTTCTTCTGTTTCC-A
• MyVariant Identifiers: chr5:g.177035676_177035690del (hg19) ; chr5:g.177608675_177608689del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608676_177608690del , CM000667.2:g.177608676_177608690del	GRCh38
NC_000005.9:g.177035677_177035691del , CM000667.1:g.177035677_177035691del	GRCh37
NC_000005.8:g.176968283_176968297del	NCBI36
NG_015977.1:g.13559_13573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+54_723+68del MANE Select	ENSP00000029410.5:n.723+54_723+68del
ENST00000029410.9:c.723+54_723+68del	ENSP00000029410.5:n.723+54_723+68del
ENST00000505145.1:n.1821+54_1821+68del
ENST00000505433.5:c.*229+54_*229+68del	ENSP00000425591.1:n.*229+54_*229+68del
ENST00000515353.1:n.1312_1326del
NM_007255.2:c.723+54_723+68del	NP_009186.1:n.723+54_723+68del
XM_005265805.2:c.381+54_381+68del	XP_005265862.1:n.381+54_381+68del
XM_006714816.2:c.243+54_243+68del	XP_006714879.1:n.243+54_243+68del
XM_011534421.1:c.381+54_381+68del	XP_011532723.1:n.381+54_381+68del
XM_006714816.4:c.243+54_243+68del	XP_006714879.1:n.243+54_243+68del
XM_017008999.2:c.381+54_381+68del	XP_016864488.1:n.381+54_381+68del
NM_007255.3:c.723+54_723+68del MANE Select	NP_009186.1:n.723+54_723+68del