Canonical Allele Identifier: CA2684857222

Gene: SMO

Linked Data

• gnomAD v4: 7-129213162-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213163del , CM000669.2:g.129213163del	GRCh38
NC_000007.13:g.128853004del , CM000669.1:g.128853004del	GRCh37
NC_000007.12:g.128640240del	NCBI36
NG_023340.1:g.29292del
NG_023340.2:g.29292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*712del MANE Select	ENSP00000249373.3:n.*712del
ENST00000655644.1:c.*2831del	ENSP00000499377.1:n.*2831del
ENST00000249373.7:c.*712del	ENSP00000249373.3:n.*712del
NM_005631.4:c.*712del	NP_005622.1:n.*712del
XM_011516522.1:c.*712del	XP_011514824.1:n.*712del
XM_024446891.1:c.*712del	XP_024302659.1:n.*712del
NM_005631.5:c.*712del MANE Select	NP_005622.1:n.*712del