Canonical Allele Identifier: CA2685803830
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812312_155812317del , CM000669.2:g.155812312_155812317del GRCh38
NC_000007.13:g.155605006_155605011del , CM000669.1:g.155605006_155605011del GRCh37
NC_000007.12:g.155297767_155297772del NCBI36
NG_007504.2:g.4957_4962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-195_-190del MANE Select ENSP00000297261.2:n.-195_-190del
NM_000193.4:c.-195_-190del MANE Select NP_000184.1:n.-195_-190del