Canonical Allele Identifier: CA625975843

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1567844502
• gnomAD v2: 17-38784630-AAG-A
• gnomAD v3: 17-40628378-AAG-A
• gnomAD v4: 17-40628378-AAG-A
• MyVariant Identifiers: chr17:g.38784631_38784632del (hg19) ; chr17:g.40628379_40628380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628383_40628384del , CM000679.2:g.40628383_40628384del	GRCh38
NC_000017.10:g.38784635_38784636del , CM000679.1:g.38784635_38784636del	GRCh37
NC_000017.9:g.36038161_36038162del	NCBI36
NG_032163.1:g.24472_24473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1203_*1204del	ENSP00000466608.2:n.*1203_*1204del
ENST00000348513.12:c.*405_*406del MANE Select	ENSP00000323967.6:n.*405_*406del
ENST00000377808.9:c.*628_*629del	ENSP00000367039.4:n.*628_*629del
ENST00000400122.8:c.*628_*629del	ENSP00000411607.2:n.*628_*629del
ENST00000469334.6:n.2239_2240del
ENST00000578112.6:c.*1438_*1439del	ENSP00000464501.1:n.*1438_*1439del
ENST00000580419.6:c.*620_*621del	ENSP00000462475.2:n.*620_*621del
ENST00000642576.1:n.2784_2785del
ENST00000643030.1:n.2264_2265del
ENST00000643255.1:c.*3705_*3706del	ENSP00000493957.1:n.*3705_*3706del
ENST00000643318.1:c.*405_*406del	ENSP00000494771.1:n.*405_*406del
ENST00000643378.1:n.2196_2197del
ENST00000643683.1:c.*405_*406del	ENSP00000496094.1:n.*405_*406del
ENST00000643893.1:n.1934_1935del
ENST00000644443.1:n.3529_3530del
ENST00000644523.1:n.1687_1688del
ENST00000644527.1:c.*405_*406del	ENSP00000493974.1:n.*405_*406del
ENST00000644701.1:c.*628_*629del	ENSP00000496097.1:n.*628_*629del
ENST00000644909.1:c.*910_*911del	ENSP00000493649.1:n.*910_*911del
ENST00000645152.1:n.2304_2305del
ENST00000645227.1:c.*1329_*1330del	ENSP00000495021.1:n.*1329_*1330del
ENST00000646242.1:n.7553_7554del
ENST00000646283.1:c.*405_*406del	ENSP00000494537.1:n.*405_*406del
ENST00000646401.1:n.3007_3008del
ENST00000646856.1:c.*1517_*1518del	ENSP00000494505.1:n.*1517_*1518del
ENST00000647294.1:c.*1571_*1572del	ENSP00000494815.1:n.*1571_*1572del
ENST00000647508.1:c.*405_*406del	ENSP00000496445.1:n.*405_*406del
ENST00000647515.1:c.*1172_*1173del	ENSP00000495857.1:n.*1172_*1173del
ENST00000348513.10:c.*405_*406del	ENSP00000323967.6:n.*405_*406del
ENST00000578112.5:c.*1438_*1439del	ENSP00000464501.1:n.*1438_*1439del
NM_003079.4:c.*405_*406del	NP_003070.3:n.*405_*406del
NM_003079.5:c.*405_*406del MANE Select	NP_003070.3:n.*405_*406del