Canonical Allele Identifier: CA2684857176

Gene: SMO

Linked Data

• gnomAD v4: 7-129213132-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213132_129213133insAA , CM000669.2:g.129213132_129213133insAA	GRCh38
NC_000007.13:g.128852973_128852974insAA , CM000669.1:g.128852973_128852974insAA	GRCh37
NC_000007.12:g.128640209_128640210insAA	NCBI36
NG_023340.1:g.29261_29262insAA
NG_023340.2:g.29261_29262insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*681_*682insAA MANE Select	ENSP00000249373.3:n.*681_*682insAA
ENST00000655644.1:c.*2800_*2801insAA	ENSP00000499377.1:n.*2800_*2801insAA
ENST00000249373.7:c.*681_*682insAA	ENSP00000249373.3:n.*681_*682insAA
NM_005631.4:c.*681_*682insAA	NP_005622.1:n.*681_*682insAA
XM_011516522.1:c.*681_*682insAA	XP_011514824.1:n.*681_*682insAA
XM_024446891.1:c.*681_*682insAA	XP_024302659.1:n.*681_*682insAA
NM_005631.5:c.*681_*682insAA MANE Select	NP_005622.1:n.*681_*682insAA