Canonical Allele Identifier: CA2685803895
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812342_155812343del , CM000669.2:g.155812342_155812343del GRCh38
NC_000007.13:g.155605036_155605037del , CM000669.1:g.155605036_155605037del GRCh37
NC_000007.12:g.155297797_155297798del NCBI36
NG_007504.2:g.4931_4932del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-221_-220del MANE Select ENSP00000297261.2:n.-221_-220del
NM_000193.4:c.-221_-220del MANE Select NP_000184.1:n.-221_-220del