Canonical Allele Identifier: CA1754784595

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812156_155812166delinsCCCGTGCGGGT , CM000669.2:g.155812156_155812166delinsCCCGTGCGGGT	GRCh38
NC_000007.13:g.155604850_155604860delinsCCCGTGCGGGT , CM000669.1:g.155604850_155604860delinsCCCGTGCGGGT	GRCh37
NC_000007.12:g.155297611_155297621delinsCCCGTGCGGGT	NCBI36
NG_007504.2:g.5108_5118delinsACCCGCACGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-44_-34delinsACCCGCACGGG MANE Select	ENSP00000297261.2:n.-44_-34delinsACCCGCACGGG
ENST00000297261.6:c.-44_-34delinsACCCGCACGGG	ENSP00000297261.2:n.-44_-34delinsACCCGCACGGG
NM_000193.2:c.-44_-34delinsACCCGCACGGG	NP_000184.1:n.-44_-34delinsACCCGCACGGG
NM_000193.3:c.-44_-34delinsACCCGCACGGG	NP_000184.1:n.-44_-34delinsACCCGCACGGG
NM_000193.4:c.-44_-34delinsACCCGCACGGG MANE Select	NP_000184.1:n.-44_-34delinsACCCGCACGGG