Canonical Allele Identifier: CA2685803614

Gene: SHH

Linked Data

• gnomAD v4: 7-155812216-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812217dup , CM000669.2:g.155812217dup	GRCh38
NC_000007.13:g.155604911dup , CM000669.1:g.155604911dup	GRCh37
NC_000007.12:g.155297672dup	NCBI36
NG_007504.2:g.5057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-95dup MANE Select	ENSP00000297261.2:n.-95dup
ENST00000297261.6:c.-95dup	ENSP00000297261.2:n.-95dup
NM_000193.2:c.-95dup	NP_000184.1:n.-95dup
NM_000193.3:c.-95dup	NP_000184.1:n.-95dup
NM_000193.4:c.-95dup MANE Select	NP_000184.1:n.-95dup