Canonical Allele Identifier: CA290547226

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1046068594
• gnomAD v2: 17-38784753-T-TA
• gnomAD v3: 17-40628501-T-TA
• gnomAD v4: 17-40628501-T-TA
• MyVariant Identifiers: chr17:g.38784753_38784754insA (hg19) ; chr17:g.40628501_40628502insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628503dup , CM000679.2:g.40628503dup	GRCh38
NC_000017.10:g.38784755dup , CM000679.1:g.38784755dup	GRCh37
NC_000017.9:g.36038281dup	NCBI36
NG_032163.1:g.24350dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1081dup	ENSP00000466608.2:n.*1081dup
ENST00000348513.12:c.*283dup MANE Select	ENSP00000323967.6:n.*283dup
ENST00000377808.9:c.*506dup	ENSP00000367039.4:n.*506dup
ENST00000400122.8:c.*506dup	ENSP00000411607.2:n.*506dup
ENST00000469334.6:n.2117dup
ENST00000578112.6:c.*1316dup	ENSP00000464501.1:n.*1316dup
ENST00000580419.6:c.*498dup	ENSP00000462475.2:n.*498dup
ENST00000642576.1:n.2662dup
ENST00000643030.1:n.2142dup
ENST00000643255.1:c.*3583dup	ENSP00000493957.1:n.*3583dup
ENST00000643318.1:c.*283dup	ENSP00000494771.1:n.*283dup
ENST00000643378.1:n.2074dup
ENST00000643683.1:c.*283dup	ENSP00000496094.1:n.*283dup
ENST00000643893.1:n.1812dup
ENST00000644443.1:n.3407dup
ENST00000644523.1:n.1565dup
ENST00000644527.1:c.*283dup	ENSP00000493974.1:n.*283dup
ENST00000644701.1:c.*506dup	ENSP00000496097.1:n.*506dup
ENST00000644909.1:c.*788dup	ENSP00000493649.1:n.*788dup
ENST00000645152.1:n.2182dup
ENST00000645227.1:c.*1207dup	ENSP00000495021.1:n.*1207dup
ENST00000646242.1:n.7431dup
ENST00000646283.1:c.*283dup	ENSP00000494537.1:n.*283dup
ENST00000646401.1:n.2885dup
ENST00000646856.1:c.*1395dup	ENSP00000494505.1:n.*1395dup
ENST00000647294.1:c.*1449dup	ENSP00000494815.1:n.*1449dup
ENST00000647508.1:c.*283dup	ENSP00000496445.1:n.*283dup
ENST00000647515.1:c.*1050dup	ENSP00000495857.1:n.*1050dup
ENST00000348513.10:c.*283dup	ENSP00000323967.6:n.*283dup
ENST00000431889.6:c.*283dup	ENSP00000445370.1:n.*283dup
ENST00000469334.5:n.2106dup
ENST00000578112.5:c.*1316dup	ENSP00000464501.1:n.*1316dup
NM_003079.4:c.*283dup	NP_003070.3:n.*283dup
NM_003079.5:c.*283dup MANE Select	NP_003070.3:n.*283dup