Canonical Allele Identifier: CA2685803567

Gene: SHH

Linked Data

• gnomAD v4: 7-155812193-T-TGTGCGTGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812195_155812204dup , CM000669.2:g.155812195_155812204dup	GRCh38
NC_000007.13:g.155604889_155604898dup , CM000669.1:g.155604889_155604898dup	GRCh37
NC_000007.12:g.155297650_155297659dup	NCBI36
NG_007504.2:g.5071_5080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-81_-72dup MANE Select	ENSP00000297261.2:n.-81_-72dup
ENST00000297261.6:c.-81_-72dup	ENSP00000297261.2:n.-81_-72dup
NM_000193.2:c.-81_-72dup	NP_000184.1:n.-81_-72dup
NM_000193.3:c.-81_-72dup	NP_000184.1:n.-81_-72dup
NM_000193.4:c.-81_-72dup MANE Select	NP_000184.1:n.-81_-72dup