Canonical Allele Identifier: CA2685803555

Gene: SHH

Linked Data

• gnomAD v4: 7-155812189-GGTGTGTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812195_155812202del , CM000669.2:g.155812195_155812202del	GRCh38
NC_000007.13:g.155604889_155604896del , CM000669.1:g.155604889_155604896del	GRCh37
NC_000007.12:g.155297650_155297657del	NCBI36
NG_007504.2:g.5077_5084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-75_-68del MANE Select	ENSP00000297261.2:n.-75_-68del
ENST00000297261.6:c.-75_-68del	ENSP00000297261.2:n.-75_-68del
NM_000193.2:c.-75_-68del	NP_000184.1:n.-75_-68del
NM_000193.3:c.-75_-68del	NP_000184.1:n.-75_-68del
NM_000193.4:c.-75_-68del MANE Select	NP_000184.1:n.-75_-68del