Canonical Allele Identifier: CA2777863401

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213108_129213109insGAGA , CM000669.2:g.129213108_129213109insGAGA	GRCh38
NC_000007.13:g.128852949_128852950insGAGA , CM000669.1:g.128852949_128852950insGAGA	GRCh37
NC_000007.12:g.128640185_128640186insGAGA	NCBI36
NG_023340.1:g.29237_29238insGAGA
NG_023340.2:g.29237_29238insGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*657_*658insGAGA MANE Select	ENSP00000249373.3:n.*657_*658insGAGA
ENST00000655644.1:c.*2776_*2777insGAGA	ENSP00000499377.1:n.*2776_*2777insGAGA
ENST00000249373.7:c.*657_*658insGAGA	ENSP00000249373.3:n.*657_*658insGAGA
NM_005631.4:c.*657_*658insGAGA	NP_005622.1:n.*657_*658insGAGA
XM_011516522.1:c.*657_*658insGAGA	XP_011514824.1:n.*657_*658insGAGA
XM_024446891.1:c.*657_*658insGAGA	XP_024302659.1:n.*657_*658insGAGA
NM_005631.5:c.*657_*658insGAGA MANE Select	NP_005622.1:n.*657_*658insGAGA