Canonical Allele Identifier: CA2573153792

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1361349
• ClinVar RCV Id: RCV001907501
• dbSNP Id: rs2143980165
• gnomAD v4: 17-40628786-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628787_40628788insAAA , CM000679.2:g.40628787_40628788insAAA	GRCh38
NC_000017.10:g.38785039_38785040insAAA , CM000679.1:g.38785039_38785040insAAA	GRCh37
NC_000017.9:g.36038565_36038566insAAA	NCBI36
NG_032163.1:g.24065_24066insTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*796_*797insTTT	ENSP00000466608.2:n.*796_*797insTTT
ENST00000348513.12:c.1234_1235insTTT MANE Select	ENSP00000323967.6:p.Ter412PhefsTer2
ENST00000377808.9:c.*221_*222insTTT	ENSP00000367039.4:n.*221_*222insTTT
ENST00000400122.8:c.*221_*222insTTT	ENSP00000411607.2:n.*221_*222insTTT
ENST00000469334.6:n.1832_1833insTTT
ENST00000578044.6:c.1024_1025insTTT	ENSP00000464511.1:p.Ter342PhefsTer2
ENST00000578112.6:c.*1031_*1032insTTT	ENSP00000464501.1:n.*1031_*1032insTTT
ENST00000580419.6:c.*213_*214insTTT	ENSP00000462475.2:n.*213_*214insTTT
ENST00000642576.1:n.2377_2378insTTT
ENST00000643030.1:n.1857_1858insTTT
ENST00000643255.1:c.*3298_*3299insTTT	ENSP00000493957.1:n.*3298_*3299insTTT
ENST00000643318.1:c.1024_1025insTTT	ENSP00000494771.1:p.Ter342PhefsTer2
ENST00000643378.1:n.1789_1790insTTT
ENST00000643683.1:c.1234_1235insTTT	ENSP00000496094.1:p.Ter412PhefsTer2
ENST00000643893.1:n.1527_1528insTTT
ENST00000644443.1:n.3122_3123insTTT
ENST00000644523.1:n.1280_1281insTTT
ENST00000644527.1:c.1006_1007insTTT	ENSP00000493974.1:p.Ter336PhefsTer2
ENST00000644701.1:c.*221_*222insTTT	ENSP00000496097.1:n.*221_*222insTTT
ENST00000644909.1:c.*503_*504insTTT	ENSP00000493649.1:n.*503_*504insTTT
ENST00000645152.1:n.1897_1898insTTT
ENST00000645227.1:c.*922_*923insTTT	ENSP00000495021.1:n.*922_*923insTTT
ENST00000646242.1:n.7146_7147insTTT
ENST00000646283.1:c.1042_1043insTTT	ENSP00000494537.1:p.Ter348PhefsTer2
ENST00000646401.1:n.2600_2601insTTT
ENST00000646448.1:n.2508_2509insTTT
ENST00000646856.1:c.*1110_*1111insTTT	ENSP00000494505.1:n.*1110_*1111insTTT
ENST00000647294.1:c.*1164_*1165insTTT	ENSP00000494815.1:n.*1164_*1165insTTT
ENST00000647508.1:c.1129_1130insTTT	ENSP00000496445.1:p.Ter377PhefsTer2
ENST00000647515.1:c.*765_*766insTTT	ENSP00000495857.1:n.*765_*766insTTT
ENST00000348513.10:c.1234_1235insTTT	ENSP00000323967.6:p.Ter412PhefsTer2
ENST00000377808.8:c.*221_*222insTTT	ENSP00000367039.4:n.*221_*222insTTT
ENST00000400122.7:c.*221_*222insTTT	ENSP00000411607.2:n.*221_*222insTTT
ENST00000431889.6:c.1180_1181insTTT	ENSP00000445370.1:p.Ter394PhefsTer2
ENST00000469334.5:n.1821_1822insTTT
ENST00000578044.5:c.1024_1025insTTT	ENSP00000464511.1:p.Ter342PhefsTer2
ENST00000578112.5:c.*1031_*1032insTTT	ENSP00000464501.1:n.*1031_*1032insTTT
ENST00000580419.5:c.1129_1130insTTT	ENSP00000462475.1:p.Ter377PhefsTer2
NM_003079.4:c.1234_1235insTTT	NP_003070.3:p.Ter412PhefsTer2
NM_003079.5:c.1234_1235insTTT MANE Select	NP_003070.3:p.Ter412PhefsTer2