Canonical Allele Identifier: CA2684857094

Gene: SMO

Linked Data

• gnomAD v4: 7-129213088-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213089del , CM000669.2:g.129213089del	GRCh38
NC_000007.13:g.128852930del , CM000669.1:g.128852930del	GRCh37
NC_000007.12:g.128640166del	NCBI36
NG_023340.1:g.29218del
NG_023340.2:g.29218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*638del MANE Select	ENSP00000249373.3:n.*638del
ENST00000655644.1:c.*2757del	ENSP00000499377.1:n.*2757del
ENST00000249373.7:c.*638del	ENSP00000249373.3:n.*638del
NM_005631.4:c.*638del	NP_005622.1:n.*638del
XM_011516522.1:c.*638del	XP_011514824.1:n.*638del
XM_024446891.1:c.*638del	XP_024302659.1:n.*638del
NM_005631.5:c.*638del MANE Select	NP_005622.1:n.*638del