Canonical Allele Identifier: CA564901010

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1561814224
• gnomAD v2: 5-177031401-GCCCCC-G
• MyVariant Identifiers: chr5:g.177031402_177031406del (hg19) ; chr5:g.177604401_177604405del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604401_177604405del , CM000667.2:g.177604401_177604405del	GRCh38
NC_000005.9:g.177031402_177031406del , CM000667.1:g.177031402_177031406del	GRCh37
NC_000005.8:g.176964008_176964012del	NCBI36
NG_015977.1:g.9284_9288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.273_277del MANE Select	ENSP00000029410.5:p.His93ProfsTer?
ENST00000029410.9:c.273_277del	ENSP00000029410.5:p.His93ProfsTer?
ENST00000502420.1:n.252_256del
ENST00000505433.5:c.273_277del	ENSP00000425591.1:p.His93ProfsTer?
ENST00000505468.1:c.-70_-66del	ENSP00000420886.1:n.-70_-66del
ENST00000507061.1:c.90_94del	ENSP00000423868.1:p.His32ProfsTer?
ENST00000510761.1:c.-70_-66del	ENSP00000423438.1:n.-70_-66del
NM_007255.2:c.273_277del	NP_009186.1:p.His93ProfsTer?
XM_005265805.2:c.-70_-66del	XP_005265862.1:n.-70_-66del
XM_006714816.2:c.-227_-223del	XP_006714879.1:n.-227_-223del
XM_011534421.1:c.-70_-66del	XP_011532723.1:n.-70_-66del
XM_006714816.4:c.-227_-223del	XP_006714879.1:n.-227_-223del
XM_017008999.2:c.-70_-66del	XP_016864488.1:n.-70_-66del
NM_007255.3:c.273_277del MANE Select	NP_009186.1:p.His93ProfsTer?