Canonical Allele Identifier: CA2637750216

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628736-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628737_40628738del , CM000679.2:g.40628737_40628738del	GRCh38
NC_000017.10:g.38784989_38784990del , CM000679.1:g.38784989_38784990del	GRCh37
NC_000017.9:g.36038515_36038516del	NCBI36
NG_032163.1:g.24114_24115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*845_*846del	ENSP00000466608.2:n.*845_*846del
ENST00000348513.12:c.*47_*48del MANE Select	ENSP00000323967.6:n.*47_*48del
ENST00000377808.9:c.*270_*271del	ENSP00000367039.4:n.*270_*271del
ENST00000400122.8:c.*270_*271del	ENSP00000411607.2:n.*270_*271del
ENST00000469334.6:n.1881_1882del
ENST00000578112.6:c.*1080_*1081del	ENSP00000464501.1:n.*1080_*1081del
ENST00000580419.6:c.*262_*263del	ENSP00000462475.2:n.*262_*263del
ENST00000642576.1:n.2426_2427del
ENST00000643030.1:n.1906_1907del
ENST00000643255.1:c.*3347_*3348del	ENSP00000493957.1:n.*3347_*3348del
ENST00000643318.1:c.*47_*48del	ENSP00000494771.1:n.*47_*48del
ENST00000643378.1:n.1838_1839del
ENST00000643683.1:c.*47_*48del	ENSP00000496094.1:n.*47_*48del
ENST00000643893.1:n.1576_1577del
ENST00000644443.1:n.3171_3172del
ENST00000644523.1:n.1329_1330del
ENST00000644527.1:c.*47_*48del	ENSP00000493974.1:n.*47_*48del
ENST00000644701.1:c.*270_*271del	ENSP00000496097.1:n.*270_*271del
ENST00000644909.1:c.*552_*553del	ENSP00000493649.1:n.*552_*553del
ENST00000645152.1:n.1946_1947del
ENST00000645227.1:c.*971_*972del	ENSP00000495021.1:n.*971_*972del
ENST00000646242.1:n.7195_7196del
ENST00000646283.1:c.*47_*48del	ENSP00000494537.1:n.*47_*48del
ENST00000646401.1:n.2649_2650del
ENST00000646856.1:c.*1159_*1160del	ENSP00000494505.1:n.*1159_*1160del
ENST00000647294.1:c.*1213_*1214del	ENSP00000494815.1:n.*1213_*1214del
ENST00000647508.1:c.*47_*48del	ENSP00000496445.1:n.*47_*48del
ENST00000647515.1:c.*814_*815del	ENSP00000495857.1:n.*814_*815del
ENST00000348513.10:c.*47_*48del	ENSP00000323967.6:n.*47_*48del
ENST00000431889.6:c.*47_*48del	ENSP00000445370.1:n.*47_*48del
ENST00000469334.5:n.1870_1871del
ENST00000578112.5:c.*1080_*1081del	ENSP00000464501.1:n.*1080_*1081del
NM_003079.4:c.*47_*48del	NP_003070.3:n.*47_*48del
NM_003079.5:c.*47_*48del MANE Select	NP_003070.3:n.*47_*48del