Canonical Allele Identifier: CA2637750140

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628649-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628651_40628652dup , CM000679.2:g.40628651_40628652dup	GRCh38
NC_000017.10:g.38784903_38784904dup , CM000679.1:g.38784903_38784904dup	GRCh37
NC_000017.9:g.36038429_36038430dup	NCBI36
NG_032163.1:g.24201_24202dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*932_*933dup	ENSP00000466608.2:n.*932_*933dup
ENST00000348513.12:c.*134_*135dup MANE Select	ENSP00000323967.6:n.*134_*135dup
ENST00000377808.9:c.*357_*358dup	ENSP00000367039.4:n.*357_*358dup
ENST00000400122.8:c.*357_*358dup	ENSP00000411607.2:n.*357_*358dup
ENST00000469334.6:n.1968_1969dup
ENST00000578112.6:c.*1167_*1168dup	ENSP00000464501.1:n.*1167_*1168dup
ENST00000580419.6:c.*349_*350dup	ENSP00000462475.2:n.*349_*350dup
ENST00000642576.1:n.2513_2514dup
ENST00000643030.1:n.1993_1994dup
ENST00000643255.1:c.*3434_*3435dup	ENSP00000493957.1:n.*3434_*3435dup
ENST00000643318.1:c.*134_*135dup	ENSP00000494771.1:n.*134_*135dup
ENST00000643378.1:n.1925_1926dup
ENST00000643683.1:c.*134_*135dup	ENSP00000496094.1:n.*134_*135dup
ENST00000643893.1:n.1663_1664dup
ENST00000644443.1:n.3258_3259dup
ENST00000644523.1:n.1416_1417dup
ENST00000644527.1:c.*134_*135dup	ENSP00000493974.1:n.*134_*135dup
ENST00000644701.1:c.*357_*358dup	ENSP00000496097.1:n.*357_*358dup
ENST00000644909.1:c.*639_*640dup	ENSP00000493649.1:n.*639_*640dup
ENST00000645152.1:n.2033_2034dup
ENST00000645227.1:c.*1058_*1059dup	ENSP00000495021.1:n.*1058_*1059dup
ENST00000646242.1:n.7282_7283dup
ENST00000646283.1:c.*134_*135dup	ENSP00000494537.1:n.*134_*135dup
ENST00000646401.1:n.2736_2737dup
ENST00000646856.1:c.*1246_*1247dup	ENSP00000494505.1:n.*1246_*1247dup
ENST00000647294.1:c.*1300_*1301dup	ENSP00000494815.1:n.*1300_*1301dup
ENST00000647508.1:c.*134_*135dup	ENSP00000496445.1:n.*134_*135dup
ENST00000647515.1:c.*901_*902dup	ENSP00000495857.1:n.*901_*902dup
ENST00000348513.10:c.*134_*135dup	ENSP00000323967.6:n.*134_*135dup
ENST00000431889.6:c.*134_*135dup	ENSP00000445370.1:n.*134_*135dup
ENST00000469334.5:n.1957_1958dup
ENST00000578112.5:c.*1167_*1168dup	ENSP00000464501.1:n.*1167_*1168dup
NM_003079.4:c.*134_*135dup	NP_003070.3:n.*134_*135dup
NM_003079.5:c.*134_*135dup MANE Select	NP_003070.3:n.*134_*135dup