Canonical Allele Identifier: CA808133249

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1439564757
• gnomAD v4: 5-177604365-GC-G
• MyVariant Identifiers: chr5:g.177031367del (hg19) ; chr5:g.177604366del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604370del , CM000667.2:g.177604370del	GRCh38
NC_000005.9:g.177031371del , CM000667.1:g.177031371del	GRCh37
NC_000005.8:g.176963977del	NCBI36
NG_015977.1:g.9253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.242del MANE Select	ENSP00000029410.5:p.Pro81LeufsTer?
ENST00000029410.9:c.242del	ENSP00000029410.5:p.Pro81LeufsTer?
ENST00000502420.1:n.221del
ENST00000505433.5:c.242del	ENSP00000425591.1:p.Pro81LeufsTer?
ENST00000505468.1:c.-101del	ENSP00000420886.1:n.-101del
ENST00000507061.1:c.59del	ENSP00000423868.1:p.Pro20LeufsTer?
ENST00000510761.1:c.-101del	ENSP00000423438.1:n.-101del
NM_007255.2:c.242del	NP_009186.1:p.Pro81LeufsTer?
XM_005265805.2:c.-101del	XP_005265862.1:n.-101del
XM_006714816.2:c.-258del	XP_006714879.1:n.-258del
XM_011534421.1:c.-101del	XP_011532723.1:n.-101del
XM_006714816.4:c.-258del	XP_006714879.1:n.-258del
XM_017008999.2:c.-101del	XP_016864488.1:n.-101del
NM_007255.3:c.242del MANE Select	NP_009186.1:p.Pro81LeufsTer?