Canonical Allele Identifier: CA2685803514

Gene: SHH

Linked Data

• gnomAD v4: 7-155812174-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812175del , CM000669.2:g.155812175del	GRCh38
NC_000007.13:g.155604869del , CM000669.1:g.155604869del	GRCh37
NC_000007.12:g.155297630del	NCBI36
NG_007504.2:g.5099del

Transcript Alleles

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