Canonical Allele Identifier: CA2684856949

Gene: SMO

Linked Data

• gnomAD v4: 7-129213047-T-TGTTATTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213047_129213048insGTTATTTTG , CM000669.2:g.129213047_129213048insGTTATTTTG	GRCh38
NC_000007.13:g.128852888_128852889insGTTATTTTG , CM000669.1:g.128852888_128852889insGTTATTTTG	GRCh37
NC_000007.12:g.128640124_128640125insGTTATTTTG	NCBI36
NG_023340.1:g.29176_29177insGTTATTTTG
NG_023340.2:g.29176_29177insGTTATTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*596_*597insGTTATTTTG MANE Select	ENSP00000249373.3:n.*596_*597insGTTATTTTG
ENST00000655644.1:c.*2715_*2716insGTTATTTTG	ENSP00000499377.1:n.*2715_*2716insGTTATTTTG
ENST00000249373.7:c.*596_*597insGTTATTTTG	ENSP00000249373.3:n.*596_*597insGTTATTTTG
NM_005631.4:c.*596_*597insGTTATTTTG	NP_005622.1:n.*596_*597insGTTATTTTG
XM_011516522.1:c.*596_*597insGTTATTTTG	XP_011514824.1:n.*596_*597insGTTATTTTG
XM_024446891.1:c.*596_*597insGTTATTTTG	XP_024302659.1:n.*596_*597insGTTATTTTG
NM_005631.5:c.*596_*597insGTTATTTTG MANE Select	NP_005622.1:n.*596_*597insGTTATTTTG