Canonical Allele Identifier: CA2259640459

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628712_40628713delinsCG , CM000679.2:g.40628712_40628713delinsCG	GRCh38
NC_000017.10:g.38784964_38784965delinsCG , CM000679.1:g.38784964_38784965delinsCG	GRCh37
NC_000017.9:g.36038490_36038491delinsCG	NCBI36
NG_032163.1:g.24139_24140delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*870_*871delinsCG	ENSP00000466608.2:n.*870_*871delinsCG
ENST00000348513.12:c.*72_*73delinsCG MANE Select	ENSP00000323967.6:n.*72_*73delinsCG
ENST00000377808.9:c.*295_*296delinsCG	ENSP00000367039.4:n.*295_*296delinsCG
ENST00000400122.8:c.*295_*296delinsCG	ENSP00000411607.2:n.*295_*296delinsCG
ENST00000469334.6:n.1906_1907delinsCG
ENST00000578112.6:c.*1105_*1106delinsCG	ENSP00000464501.1:n.*1105_*1106delinsCG
ENST00000580419.6:c.*287_*288delinsCG	ENSP00000462475.2:n.*287_*288delinsCG
ENST00000642576.1:n.2451_2452delinsCG
ENST00000643030.1:n.1931_1932delinsCG
ENST00000643255.1:c.*3372_*3373delinsCG	ENSP00000493957.1:n.*3372_*3373delinsCG
ENST00000643318.1:c.*72_*73delinsCG	ENSP00000494771.1:n.*72_*73delinsCG
ENST00000643378.1:n.1863_1864delinsCG
ENST00000643683.1:c.*72_*73delinsCG	ENSP00000496094.1:n.*72_*73delinsCG
ENST00000643893.1:n.1601_1602delinsCG
ENST00000644443.1:n.3196_3197delinsCG
ENST00000644523.1:n.1354_1355delinsCG
ENST00000644527.1:c.*72_*73delinsCG	ENSP00000493974.1:n.*72_*73delinsCG
ENST00000644701.1:c.*295_*296delinsCG	ENSP00000496097.1:n.*295_*296delinsCG
ENST00000644909.1:c.*577_*578delinsCG	ENSP00000493649.1:n.*577_*578delinsCG
ENST00000645152.1:n.1971_1972delinsCG
ENST00000645227.1:c.*996_*997delinsCG	ENSP00000495021.1:n.*996_*997delinsCG
ENST00000646242.1:n.7220_7221delinsCG
ENST00000646283.1:c.*72_*73delinsCG	ENSP00000494537.1:n.*72_*73delinsCG
ENST00000646401.1:n.2674_2675delinsCG
ENST00000646856.1:c.*1184_*1185delinsCG	ENSP00000494505.1:n.*1184_*1185delinsCG
ENST00000647294.1:c.*1238_*1239delinsCG	ENSP00000494815.1:n.*1238_*1239delinsCG
ENST00000647508.1:c.*72_*73delinsCG	ENSP00000496445.1:n.*72_*73delinsCG
ENST00000647515.1:c.*839_*840delinsCG	ENSP00000495857.1:n.*839_*840delinsCG
ENST00000348513.10:c.*72_*73delinsCG	ENSP00000323967.6:n.*72_*73delinsCG
ENST00000431889.6:c.*72_*73delinsCG	ENSP00000445370.1:n.*72_*73delinsCG
ENST00000469334.5:n.1895_1896delinsCG
ENST00000578112.5:c.*1105_*1106delinsCG	ENSP00000464501.1:n.*1105_*1106delinsCG
NM_003079.4:c.*72_*73delinsCG	NP_003070.3:n.*72_*73delinsCG
NM_003079.5:c.*72_*73delinsCG MANE Select	NP_003070.3:n.*72_*73delinsCG