Canonical Allele Identifier: CA2637750015

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628460-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628461del , CM000679.2:g.40628461del	GRCh38
NC_000017.10:g.38784713del , CM000679.1:g.38784713del	GRCh37
NC_000017.9:g.36038239del	NCBI36
NG_032163.1:g.24391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1122del	ENSP00000466608.2:n.*1122del
ENST00000348513.12:c.*324del MANE Select	ENSP00000323967.6:n.*324del
ENST00000377808.9:c.*547del	ENSP00000367039.4:n.*547del
ENST00000400122.8:c.*547del	ENSP00000411607.2:n.*547del
ENST00000469334.6:n.2158del
ENST00000578112.6:c.*1357del	ENSP00000464501.1:n.*1357del
ENST00000580419.6:c.*539del	ENSP00000462475.2:n.*539del
ENST00000642576.1:n.2703del
ENST00000643030.1:n.2183del
ENST00000643255.1:c.*3624del	ENSP00000493957.1:n.*3624del
ENST00000643318.1:c.*324del	ENSP00000494771.1:n.*324del
ENST00000643378.1:n.2115del
ENST00000643683.1:c.*324del	ENSP00000496094.1:n.*324del
ENST00000643893.1:n.1853del
ENST00000644443.1:n.3448del
ENST00000644523.1:n.1606del
ENST00000644527.1:c.*324del	ENSP00000493974.1:n.*324del
ENST00000644701.1:c.*547del	ENSP00000496097.1:n.*547del
ENST00000644909.1:c.*829del	ENSP00000493649.1:n.*829del
ENST00000645152.1:n.2223del
ENST00000645227.1:c.*1248del	ENSP00000495021.1:n.*1248del
ENST00000646242.1:n.7472del
ENST00000646283.1:c.*324del	ENSP00000494537.1:n.*324del
ENST00000646401.1:n.2926del
ENST00000646856.1:c.*1436del	ENSP00000494505.1:n.*1436del
ENST00000647294.1:c.*1490del	ENSP00000494815.1:n.*1490del
ENST00000647508.1:c.*324del	ENSP00000496445.1:n.*324del
ENST00000647515.1:c.*1091del	ENSP00000495857.1:n.*1091del
ENST00000348513.10:c.*324del	ENSP00000323967.6:n.*324del
ENST00000578112.5:c.*1357del	ENSP00000464501.1:n.*1357del
NM_003079.4:c.*324del	NP_003070.3:n.*324del
NM_003079.5:c.*324del MANE Select	NP_003070.3:n.*324del