Canonical Allele Identifier: CA652293178

Gene: SHH

Linked Data

• COSMIC: COSN15662137

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812175_155812176insC , CM000669.2:g.155812175_155812176insC	GRCh38
NC_000007.13:g.155604869_155604870insC , CM000669.1:g.155604869_155604870insC	GRCh37
NC_000007.12:g.155297630_155297631insC	NCBI36
NG_007504.2:g.5098_5099insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-54_-53insG MANE Select	ENSP00000297261.2:n.-54_-53insG
ENST00000297261.6:c.-54_-53insG	ENSP00000297261.2:n.-54_-53insG
NM_000193.2:c.-54_-53insG	NP_000184.1:n.-54_-53insG
NM_000193.3:c.-54_-53insG	NP_000184.1:n.-54_-53insG
NM_000193.4:c.-54_-53insG MANE Select	NP_000184.1:n.-54_-53insG