Canonical Allele Identifier: CA2685803496

Gene: SHH

Linked Data

• gnomAD v4: 7-155812168-CGTGCGCGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812176_155812183del , CM000669.2:g.155812176_155812183del	GRCh38
NC_000007.13:g.155604870_155604877del , CM000669.1:g.155604870_155604877del	GRCh37
NC_000007.12:g.155297631_155297638del	NCBI36
NG_007504.2:g.5098_5105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-54_-47del MANE Select	ENSP00000297261.2:n.-54_-47del
ENST00000297261.6:c.-54_-47del	ENSP00000297261.2:n.-54_-47del
NM_000193.2:c.-54_-47del	NP_000184.1:n.-54_-47del
NM_000193.3:c.-54_-47del	NP_000184.1:n.-54_-47del
NM_000193.4:c.-54_-47del MANE Select	NP_000184.1:n.-54_-47del