Canonical Allele Identifier: CA499961926

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1449395527
• gnomAD v2: 17-38784629-CAA-C
• gnomAD v3: 17-40628377-CAA-C
• gnomAD v4: 17-40628377-CAA-C
• MyVariant Identifiers: chr17:g.38784630_38784631del (hg19) ; chr17:g.40628378_40628379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628378_40628379del , CM000679.2:g.40628378_40628379del	GRCh38
NC_000017.10:g.38784630_38784631del , CM000679.1:g.38784630_38784631del	GRCh37
NC_000017.9:g.36038156_36038157del	NCBI36
NG_032163.1:g.24473_24474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1204_*1205del	ENSP00000466608.2:n.*1204_*1205del
ENST00000348513.12:c.*406_*407del MANE Select	ENSP00000323967.6:n.*406_*407del
ENST00000377808.9:c.*629_*630del	ENSP00000367039.4:n.*629_*630del
ENST00000400122.8:c.*629_*630del	ENSP00000411607.2:n.*629_*630del
ENST00000469334.6:n.2240_2241del
ENST00000578112.6:c.*1439_*1440del	ENSP00000464501.1:n.*1439_*1440del
ENST00000580419.6:c.*621_*622del	ENSP00000462475.2:n.*621_*622del
ENST00000642576.1:n.2785_2786del
ENST00000643030.1:n.2265_2266del
ENST00000643255.1:c.*3706_*3707del	ENSP00000493957.1:n.*3706_*3707del
ENST00000643318.1:c.*406_*407del	ENSP00000494771.1:n.*406_*407del
ENST00000643378.1:n.2197_2198del
ENST00000643683.1:c.*406_*407del	ENSP00000496094.1:n.*406_*407del
ENST00000643893.1:n.1935_1936del
ENST00000644443.1:n.3530_3531del
ENST00000644523.1:n.1688_1689del
ENST00000644527.1:c.*406_*407del	ENSP00000493974.1:n.*406_*407del
ENST00000644701.1:c.*629_*630del	ENSP00000496097.1:n.*629_*630del
ENST00000644909.1:c.*911_*912del	ENSP00000493649.1:n.*911_*912del
ENST00000645152.1:n.2305_2306del
ENST00000645227.1:c.*1330_*1331del	ENSP00000495021.1:n.*1330_*1331del
ENST00000646242.1:n.7554_7555del
ENST00000646283.1:c.*406_*407del	ENSP00000494537.1:n.*406_*407del
ENST00000646401.1:n.3008_3009del
ENST00000646856.1:c.*1518_*1519del	ENSP00000494505.1:n.*1518_*1519del
ENST00000647294.1:c.*1572_*1573del	ENSP00000494815.1:n.*1572_*1573del
ENST00000647508.1:c.*406_*407del	ENSP00000496445.1:n.*406_*407del
ENST00000647515.1:c.*1173_*1174del	ENSP00000495857.1:n.*1173_*1174del
ENST00000348513.10:c.*406_*407del	ENSP00000323967.6:n.*406_*407del
ENST00000578112.5:c.*1439_*1440del	ENSP00000464501.1:n.*1439_*1440del
NM_003079.4:c.*406_*407del	NP_003070.3:n.*406_*407del
NM_003079.5:c.*406_*407del MANE Select	NP_003070.3:n.*406_*407del