Canonical Allele Identifier: CA2097530

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs765016488
• ExAC: 2:217279389 TA / T
• gnomAD v2: 2-217279389-TA-T
• gnomAD v4: 2-216414666-TA-T
• MyVariant Identifiers: chr2:g.217279390del (hg19) ; chr2:g.216414667del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216414669del , CM000664.2:g.216414669del	GRCh38
NC_000002.11:g.217279392del , CM000664.1:g.217279392del	GRCh37
NC_000002.10:g.216987637del	NCBI36
NG_009771.1:g.7256del , LRG_108:g.7256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.-36del	ENSP00000394410.2:n.-36del
ENST00000430374.6:c.-36del	ENSP00000405077.2:n.-36del
ENST00000444508.6:c.-36del	ENSP00000398969.2:n.-36del
ENST00000697898.1:n.326del
ENST00000697899.1:c.-36del	ENSP00000513470.1:n.-36del
ENST00000697900.1:n.241del
ENST00000697901.1:c.-36del	ENSP00000513471.1:n.-36del
ENST00000697902.1:n.197del
ENST00000697903.1:c.-36del	ENSP00000513472.1:n.-36del
ENST00000697904.1:c.-36del	ENSP00000513473.1:n.-36del
ENST00000697905.1:c.-36del	ENSP00000513474.1:n.-36del
ENST00000697906.1:c.-36del	ENSP00000513475.1:n.-36del
ENST00000697907.1:c.-36del	ENSP00000513476.1:n.-36del
ENST00000357276.9:c.-36del MANE Select	ENSP00000349823.4:n.-36del
ENST00000357276.8:c.-36del	ENSP00000349823.4:n.-36del
ENST00000358207.9:c.-36del	ENSP00000350940.5:n.-36del
ENST00000425815.5:c.-36del	ENSP00000394410.1:n.-36del
ENST00000430374.5:c.-36del	ENSP00000405077.1:n.-36del
ENST00000434435.1:c.-36del	ENSP00000402967.1:n.-36del
ENST00000444508.5:c.-36del	ENSP00000398969.1:n.-36del
NM_001127207.1:c.-36del	NP_001120679.1:n.-36del
NM_014140.3:c.-36del , LRG_108t1:c.-36del	NP_054859.2:n.-36del
XM_005246631.2:c.-36del	XP_005246688.1:n.-36del
XM_005246632.1:c.-36del	XP_005246689.1:n.-36del
XM_006712557.1:c.-36del	XP_006712620.1:n.-36del
XM_005246632.2:c.-36del	XP_005246689.1:n.-36del
XM_017004228.2:c.-952del	XP_016859717.1:n.-952del
NM_001127207.2:c.-36del	NP_001120679.1:n.-36del
NM_014140.4:c.-36del MANE Select	NP_054859.2:n.-36del