Canonical Allele Identifier: CA652293184
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812247_155812248insT , CM000669.2:g.155812247_155812248insT GRCh38
NC_000007.13:g.155604941_155604942insT , CM000669.1:g.155604941_155604942insT GRCh37
NC_000007.12:g.155297702_155297703insT NCBI36
NG_007504.2:g.5026_5027insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-126_-125insA MANE Select ENSP00000297261.2:n.-126_-125insA
ENST00000297261.6:c.-126_-125insA ENSP00000297261.2:n.-126_-125insA
NM_000193.2:c.-126_-125insA NP_000184.1:n.-126_-125insA
NM_000193.3:c.-126_-125insA NP_000184.1:n.-126_-125insA
NM_000193.4:c.-126_-125insA MANE Select NP_000184.1:n.-126_-125insA