Canonical Allele Identifier: CA2840080442

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812129dup , CM000669.2:g.155812129dup	GRCh38
NC_000007.13:g.155604823dup , CM000669.1:g.155604823dup	GRCh37
NC_000007.12:g.155297584dup	NCBI36
NG_007504.2:g.5147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-5dup MANE Select	ENSP00000297261.2:n.-5dup
ENST00000297261.6:c.-5dup	ENSP00000297261.2:n.-5dup
NM_000193.2:c.-5dup	NP_000184.1:n.-5dup
NM_000193.3:c.-5dup	NP_000184.1:n.-5dup
NM_000193.4:c.-5dup MANE Select	NP_000184.1:n.-5dup