Canonical Allele Identifier: CA2840017485

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812098dup , CM000669.2:g.155812098dup	GRCh38
NC_000007.13:g.155604792dup , CM000669.1:g.155604792dup	GRCh37
NC_000007.12:g.155297553dup	NCBI36
NG_007504.2:g.5176dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.25dup MANE Select	ENSP00000297261.2:p.Leu9ProfsTer?
ENST00000297261.6:c.25dup	ENSP00000297261.2:p.Leu9ProfsTer?
NM_000193.2:c.25dup	NP_000184.1:p.Leu9ProfsTer?
NM_000193.3:c.25dup	NP_000184.1:p.Leu9ProfsTer?
NM_000193.4:c.25dup MANE Select	NP_000184.1:p.Leu9ProfsTer?