Canonical Allele Identifier: CA2684856866

Gene: SMO

Linked Data

• gnomAD v4: 7-129213030-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213031del , CM000669.2:g.129213031del	GRCh38
NC_000007.13:g.128852872del , CM000669.1:g.128852872del	GRCh37
NC_000007.12:g.128640108del	NCBI36
NG_023340.1:g.29160del
NG_023340.2:g.29160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*580del MANE Select	ENSP00000249373.3:n.*580del
ENST00000655644.1:c.*2699del	ENSP00000499377.1:n.*2699del
ENST00000249373.7:c.*580del	ENSP00000249373.3:n.*580del
NM_005631.4:c.*580del	NP_005622.1:n.*580del
XM_011516522.1:c.*580del	XP_011514824.1:n.*580del
XM_024446891.1:c.*580del	XP_024302659.1:n.*580del
NM_005631.5:c.*580del MANE Select	NP_005622.1:n.*580del