Canonical Allele Identifier: CA2684856767

Gene: SMO

Linked Data

• gnomAD v4: 7-129213001-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213001_129213002insT , CM000669.2:g.129213001_129213002insT	GRCh38
NC_000007.13:g.128852842_128852843insT , CM000669.1:g.128852842_128852843insT	GRCh37
NC_000007.12:g.128640078_128640079insT	NCBI36
NG_023340.1:g.29130_29131insT
NG_023340.2:g.29130_29131insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*550_*551insT MANE Select	ENSP00000249373.3:n.*550_*551insT
ENST00000655644.1:c.*2669_*2670insT	ENSP00000499377.1:n.*2669_*2670insT
ENST00000249373.7:c.*550_*551insT	ENSP00000249373.3:n.*550_*551insT
NM_005631.4:c.*550_*551insT	NP_005622.1:n.*550_*551insT
XM_011516522.1:c.*550_*551insT	XP_011514824.1:n.*550_*551insT
XM_024446891.1:c.*550_*551insT	XP_024302659.1:n.*550_*551insT
NM_005631.5:c.*550_*551insT MANE Select	NP_005622.1:n.*550_*551insT