Canonical Allele Identifier: CA2259640417

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628582_40628587delinsCAAAGA , CM000679.2:g.40628582_40628587delinsCAAAGA	GRCh38
NC_000017.10:g.38784834_38784839delinsCAAAGA , CM000679.1:g.38784834_38784839delinsCAAAGA	GRCh37
NC_000017.9:g.36038360_36038365delinsCAAAGA	NCBI36
NG_032163.1:g.24265_24270delinsTCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*996_*1001delinsTCTTTG	ENSP00000466608.2:n.*996_*1001delinsTCTTTG
ENST00000348513.12:c.*198_*203delinsTCTTTG MANE Select	ENSP00000323967.6:n.*198_*203delinsTCTTTG
ENST00000377808.9:c.*421_*426delinsTCTTTG	ENSP00000367039.4:n.*421_*426delinsTCTTTG
ENST00000400122.8:c.*421_*426delinsTCTTTG	ENSP00000411607.2:n.*421_*426delinsTCTTTG
ENST00000469334.6:n.2032_2037delinsTCTTTG
ENST00000578112.6:c.*1231_*1236delinsTCTTTG	ENSP00000464501.1:n.*1231_*1236delinsTCTTTG
ENST00000580419.6:c.*413_*418delinsTCTTTG	ENSP00000462475.2:n.*413_*418delinsTCTTTG
ENST00000642576.1:n.2577_2582delinsTCTTTG
ENST00000643030.1:n.2057_2062delinsTCTTTG
ENST00000643255.1:c.*3498_*3503delinsTCTTTG	ENSP00000493957.1:n.*3498_*3503delinsTCTTTG
ENST00000643318.1:c.*198_*203delinsTCTTTG	ENSP00000494771.1:n.*198_*203delinsTCTTTG
ENST00000643378.1:n.1989_1994delinsTCTTTG
ENST00000643683.1:c.*198_*203delinsTCTTTG	ENSP00000496094.1:n.*198_*203delinsTCTTTG
ENST00000643893.1:n.1727_1732delinsTCTTTG
ENST00000644443.1:n.3322_3327delinsTCTTTG
ENST00000644523.1:n.1480_1485delinsTCTTTG
ENST00000644527.1:c.*198_*203delinsTCTTTG	ENSP00000493974.1:n.*198_*203delinsTCTTTG
ENST00000644701.1:c.*421_*426delinsTCTTTG	ENSP00000496097.1:n.*421_*426delinsTCTTTG
ENST00000644909.1:c.*703_*708delinsTCTTTG	ENSP00000493649.1:n.*703_*708delinsTCTTTG
ENST00000645152.1:n.2097_2102delinsTCTTTG
ENST00000645227.1:c.*1122_*1127delinsTCTTTG	ENSP00000495021.1:n.*1122_*1127delinsTCTTTG
ENST00000646242.1:n.7346_7351delinsTCTTTG
ENST00000646283.1:c.*198_*203delinsTCTTTG	ENSP00000494537.1:n.*198_*203delinsTCTTTG
ENST00000646401.1:n.2800_2805delinsTCTTTG
ENST00000646856.1:c.*1310_*1315delinsTCTTTG	ENSP00000494505.1:n.*1310_*1315delinsTCTTTG
ENST00000647294.1:c.*1364_*1369delinsTCTTTG	ENSP00000494815.1:n.*1364_*1369delinsTCTTTG
ENST00000647508.1:c.*198_*203delinsTCTTTG	ENSP00000496445.1:n.*198_*203delinsTCTTTG
ENST00000647515.1:c.*965_*970delinsTCTTTG	ENSP00000495857.1:n.*965_*970delinsTCTTTG
ENST00000348513.10:c.*198_*203delinsTCTTTG	ENSP00000323967.6:n.*198_*203delinsTCTTTG
ENST00000431889.6:c.*198_*203delinsTCTTTG	ENSP00000445370.1:n.*198_*203delinsTCTTTG
ENST00000469334.5:n.2021_2026delinsTCTTTG
ENST00000578112.5:c.*1231_*1236delinsTCTTTG	ENSP00000464501.1:n.*1231_*1236delinsTCTTTG
NM_003079.4:c.*198_*203delinsTCTTTG	NP_003070.3:n.*198_*203delinsTCTTTG
NM_003079.5:c.*198_*203delinsTCTTTG MANE Select	NP_003070.3:n.*198_*203delinsTCTTTG