Canonical Allele Identifier: CA1754784727

Gene: SHH

Linked Data

• dbSNP Id: rs1803538787
• gnomAD v4: 7-155812197-C-CGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812201_155812202dup , CM000669.2:g.155812201_155812202dup	GRCh38
NC_000007.13:g.155604895_155604896dup , CM000669.1:g.155604895_155604896dup	GRCh37
NC_000007.12:g.155297656_155297657dup	NCBI36
NG_007504.2:g.5075_5076dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-77_-76dup MANE Select	ENSP00000297261.2:n.-77_-76dup
ENST00000297261.6:c.-77_-76dup	ENSP00000297261.2:n.-77_-76dup
NM_000193.2:c.-77_-76dup	NP_000184.1:n.-77_-76dup
NM_000193.3:c.-77_-76dup	NP_000184.1:n.-77_-76dup
NM_000193.4:c.-77_-76dup MANE Select	NP_000184.1:n.-77_-76dup