Canonical Allele Identifier: CA2685803599

Gene: SHH

Linked Data

• gnomAD v4: 7-155812211-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812212_155812213dup , CM000669.2:g.155812212_155812213dup	GRCh38
NC_000007.13:g.155604906_155604907dup , CM000669.1:g.155604906_155604907dup	GRCh37
NC_000007.12:g.155297667_155297668dup	NCBI36
NG_007504.2:g.5061_5062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-91_-90dup MANE Select	ENSP00000297261.2:n.-91_-90dup
ENST00000297261.6:c.-91_-90dup	ENSP00000297261.2:n.-91_-90dup
NM_000193.2:c.-91_-90dup	NP_000184.1:n.-91_-90dup
NM_000193.3:c.-91_-90dup	NP_000184.1:n.-91_-90dup
NM_000193.4:c.-91_-90dup MANE Select	NP_000184.1:n.-91_-90dup