Canonical Allele Identifier: CA2825001584

Gene: SHARPIN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144103210dup , CM000670.2:g.144103210dup	GRCh38
NC_000008.10:g.145158113dup , CM000670.1:g.145158113dup	GRCh37
NC_000008.9:g.145230101dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030974.4:c.220dup MANE Select	NP_112236.3:p.Leu74ProfsTer?
ENST00000398712.7:c.220dup MANE Select	ENSP00000381698.2:p.Leu74ProfsTer?
NM_030974.3:c.220dup	NP_112236.3:p.Leu74ProfsTer?
NR_038270.1:n.702dup
NR_038270.2:n.240dup
ENST00000359551.6:c.220dup	ENSP00000352551.6:p.Leu74ProfsTer?
ENST00000398712.6:c.220dup	ENSP00000381698.2:p.Leu74ProfsTer?
ENST00000531375.1:n.223dup
ENST00000533184.1:n.262dup
ENST00000533948.1:n.442dup
ENST00000534242.5:n.245dup
ENST00000534435.1:n.91dup
XM_017013887.2:c.220dup	XP_016869376.1:p.Leu74ProfsTer?
XM_017013888.2:c.220dup	XP_016869377.1:p.Leu74ProfsTer?