Canonical Allele Identifier: CA564519452

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1561816215
• gnomAD v2: 5-177035654-AGCTGCGGTG-A
• gnomAD v3: 5-177608653-AGCTGCGGTG-A
• gnomAD v4: 5-177608653-AGCTGCGGTG-A
• MyVariant Identifiers: chr5:g.177035655_177035663del (hg19) ; chr5:g.177608654_177608662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608659_177608667del , CM000667.2:g.177608659_177608667del	GRCh38
NC_000005.9:g.177035660_177035668del , CM000667.1:g.177035660_177035668del	GRCh37
NC_000005.8:g.176968266_176968274del	NCBI36
NG_015977.1:g.13542_13550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+37_723+45del MANE Select	ENSP00000029410.5:n.723+37_723+45del
ENST00000029410.9:c.723+37_723+45del	ENSP00000029410.5:n.723+37_723+45del
ENST00000505145.1:n.1821+37_1821+45del
ENST00000505433.5:c.*229+37_*229+45del	ENSP00000425591.1:n.*229+37_*229+45del
ENST00000515353.1:n.1295_1303del
NM_007255.2:c.723+37_723+45del	NP_009186.1:n.723+37_723+45del
XM_005265805.2:c.381+37_381+45del	XP_005265862.1:n.381+37_381+45del
XM_006714816.2:c.243+37_243+45del	XP_006714879.1:n.243+37_243+45del
XM_011534421.1:c.381+37_381+45del	XP_011532723.1:n.381+37_381+45del
XM_006714816.4:c.243+37_243+45del	XP_006714879.1:n.243+37_243+45del
XM_017008999.2:c.381+37_381+45del	XP_016864488.1:n.381+37_381+45del
NM_007255.3:c.723+37_723+45del MANE Select	NP_009186.1:n.723+37_723+45del