Canonical Allele Identifier: CA2778560917
Gene: SHH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812330_155812331insA , CM000669.2:g.155812330_155812331insA GRCh38
NC_000007.13:g.155605024_155605025insA , CM000669.1:g.155605024_155605025insA GRCh37
NC_000007.12:g.155297785_155297786insA NCBI36
NG_007504.2:g.4943_4944insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-209_-208insT MANE Select ENSP00000297261.2:n.-209_-208insT
NM_000193.4:c.-209_-208insT MANE Select NP_000184.1:n.-209_-208insT