Canonical Allele Identifier: CA808133370

Gene: B4GALT7

Linked Data

• dbSNP Id: rs879255634
• MyVariant Identifiers: chr5:g.177031402_177031404del (hg19) ; chr5:g.177604401_177604403del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604403_177604405del , CM000667.2:g.177604403_177604405del	GRCh38
NC_000005.9:g.177031404_177031406del , CM000667.1:g.177031404_177031406del	GRCh37
NC_000005.8:g.176964010_176964012del	NCBI36
NG_015977.1:g.9286_9288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.275_277del MANE Select	ENSP00000029410.5:p.Pro92del
ENST00000029410.9:c.275_277del	ENSP00000029410.5:p.Pro92del
ENST00000502420.1:n.254_256del
ENST00000505433.5:c.275_277del	ENSP00000425591.1:p.Pro92del
ENST00000505468.1:c.-68_-66del	ENSP00000420886.1:n.-68_-66del
ENST00000507061.1:c.92_94del	ENSP00000423868.1:p.Pro31del
ENST00000510761.1:c.-68_-66del	ENSP00000423438.1:n.-68_-66del
NM_007255.2:c.275_277del	NP_009186.1:p.Pro92del
XM_005265805.2:c.-68_-66del	XP_005265862.1:n.-68_-66del
XM_006714816.2:c.-225_-223del	XP_006714879.1:n.-225_-223del
XM_011534421.1:c.-68_-66del	XP_011532723.1:n.-68_-66del
XM_006714816.4:c.-225_-223del	XP_006714879.1:n.-225_-223del
XM_017008999.2:c.-68_-66del	XP_016864488.1:n.-68_-66del
NM_007255.3:c.275_277del MANE Select	NP_009186.1:p.Pro92del