Canonical Allele Identifier: CA2097637

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs756174064
• ExAC: 2:217280093 C / CA
• gnomAD v2: 2-217280093-C-CA
• gnomAD v3: 2-216415370-C-CA
• gnomAD v4: 2-216415370-C-CA
• MyVariant Identifiers: chr2:g.217280093_217280094insA (hg19) ; chr2:g.216415370_216415371insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415370_216415371insA , CM000664.2:g.216415370_216415371insA	GRCh38
NC_000002.11:g.217280093_217280094insA , CM000664.1:g.217280093_217280094insA	GRCh37
NC_000002.10:g.216988338_216988339insA	NCBI36
NG_009771.1:g.7957_7958insA , LRG_108:g.7957_7958insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.666_667insA	ENSP00000394410.2:p.Gln223ThrfsTer?
ENST00000430374.6:c.666_667insA	ENSP00000405077.2:p.Gln223ThrfsTer?
ENST00000444508.6:c.666_667insA	ENSP00000398969.2:p.Gln223ThrfsTer?
ENST00000697898.1:n.1027_1028insA
ENST00000697899.1:c.666_667insA	ENSP00000513470.1:p.Gln223ThrfsTer?
ENST00000697900.1:n.942_943insA
ENST00000697901.1:c.666_667insA	ENSP00000513471.1:p.Gln223ThrfsTer?
ENST00000697902.1:n.898_899insA
ENST00000697903.1:c.666_667insA	ENSP00000513472.1:p.Gln223ThrfsTer?
ENST00000697904.1:c.666_667insA	ENSP00000513473.1:p.Gln223ThrfsTer?
ENST00000697905.1:c.666_667insA	ENSP00000513474.1:p.Gln223ThrfsTer?
ENST00000697906.1:c.666_667insA	ENSP00000513475.1:p.Gln223ThrfsTer?
ENST00000697907.1:c.666_667insA	ENSP00000513476.1:p.Gln223ThrfsTer?
ENST00000357276.9:c.666_667insA MANE Select	ENSP00000349823.4:p.Gln223ThrfsTer?
ENST00000357276.8:c.666_667insA	ENSP00000349823.4:p.Gln223ThrfsTer?
ENST00000358207.9:c.666_667insA	ENSP00000350940.5:p.Gln223ThrfsTer?
ENST00000392128.6:c.258_259insA	ENSP00000375974.2:p.Gln87ThrfsTer?
ENST00000427645.5:c.363_364insA	ENSP00000392997.1:p.Gln122ThrfsTer?
NM_001127207.1:c.666_667insA	NP_001120679.1:p.Gln223ThrfsTer?
NM_014140.3:c.666_667insA , LRG_108t1:c.666_667insA	NP_054859.2:p.Gln223ThrfsTer?
XM_005246631.2:c.666_667insA	XP_005246688.1:p.Gln223ThrfsTer?
XM_005246632.1:c.666_667insA	XP_005246689.1:p.Gln223ThrfsTer?
XM_006712557.1:c.666_667insA	XP_006712620.1:p.Gln223ThrfsTer?
XM_005246632.2:c.666_667insA	XP_005246689.1:p.Gln223ThrfsTer?
XM_017004228.2:c.-251_-250insA	XP_016859717.1:n.-251_-250insA
NM_001127207.2:c.666_667insA	NP_001120679.1:p.Gln223ThrfsTer?
NM_014140.4:c.666_667insA MANE Select	NP_054859.2:p.Gln223ThrfsTer?