Canonical Allele Identifier: CA1871337610

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899934_108899935delinsGA , CM000671.2:g.108899934_108899935delinsGA	GRCh38
NC_000009.11:g.111662214_111662215delinsGA , CM000671.1:g.111662214_111662215delinsGA	GRCh37
NC_000009.10:g.110702035_110702036delinsGA	NCBI36
NG_008788.1:g.39394_39395delinsTC , LRG_251:g.39394_39395delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2131-40_2131-39delinsTC MANE Select	ENSP00000363779.5:n.2131-40_2131-39delinsTC
ENST00000495759.6:c.*741-40_*741-39delinsTC	ENSP00000433514.2:n.*741-40_*741-39delinsTC
ENST00000674535.1:c.2131-40_2131-39delinsTC	ENSP00000502142.1:n.2131-40_2131-39delinsTC
ENST00000674704.1:n.3938-40_3938-39delinsTC
ENST00000674836.1:n.2436-40_2436-39delinsTC
ENST00000674890.1:c.2131-40_2131-39delinsTC	ENSP00000501870.1:n.2131-40_2131-39delinsTC
ENST00000674938.1:c.1789-40_1789-39delinsTC	ENSP00000502427.1:n.1789-40_1789-39delinsTC
ENST00000674948.1:c.1789-40_1789-39delinsTC	ENSP00000501602.1:n.1789-40_1789-39delinsTC
ENST00000675052.1:c.2131-40_2131-39delinsTC	ENSP00000502664.1:n.2131-40_2131-39delinsTC
ENST00000675078.1:c.2131-40_2131-39delinsTC	ENSP00000501549.1:n.2131-40_2131-39delinsTC
ENST00000675215.1:c.*1355-40_*1355-39delinsTC	ENSP00000502558.1:n.*1355-40_*1355-39delinsTC
ENST00000675233.1:n.3958-40_3958-39delinsTC
ENST00000675321.1:c.2131-40_2131-39delinsTC	ENSP00000502751.1:n.2131-40_2131-39delinsTC
ENST00000675325.1:n.3927-40_3927-39delinsTC
ENST00000675335.1:c.2162-40_2162-39delinsTC	ENSP00000502182.1:n.2162-40_2162-39delinsTC
ENST00000675400.1:n.3804-40_3804-39delinsTC
ENST00000675406.1:c.2131-40_2131-39delinsTC	ENSP00000501893.1:n.2131-40_2131-39delinsTC
ENST00000675458.1:c.2224-40_2224-39delinsTC	ENSP00000501754.1:n.2224-40_2224-39delinsTC
ENST00000675507.1:n.3927-40_3927-39delinsTC
ENST00000675535.1:c.2131-40_2131-39delinsTC	ENSP00000501667.1:n.2131-40_2131-39delinsTC
ENST00000675566.1:n.3927-40_3927-39delinsTC
ENST00000675602.1:n.5179-40_5179-39delinsTC
ENST00000675647.1:n.2436-40_2436-39delinsTC
ENST00000675711.1:c.2131-40_2131-39delinsTC	ENSP00000502485.1:n.2131-40_2131-39delinsTC
ENST00000675727.1:c.2131-40_2131-39delinsTC	ENSP00000501722.1:n.2131-40_2131-39delinsTC
ENST00000675748.1:n.3765-40_3765-39delinsTC
ENST00000675765.1:c.2131-40_2131-39delinsTC	ENSP00000502640.1:n.2131-40_2131-39delinsTC
ENST00000675825.1:c.2131-40_2131-39delinsTC	ENSP00000502632.1:n.2131-40_2131-39delinsTC
ENST00000675877.1:n.2436-40_2436-39delinsTC
ENST00000675893.1:c.*3200-40_*3200-39delinsTC	ENSP00000502001.1:n.*3200-40_*3200-39delinsTC
ENST00000675943.1:n.5746-40_5746-39delinsTC
ENST00000675979.1:c.*1374-40_*1374-39delinsTC	ENSP00000502208.1:n.*1374-40_*1374-39delinsTC
ENST00000676044.1:c.2131-40_2131-39delinsTC	ENSP00000502378.1:n.2131-40_2131-39delinsTC
ENST00000676086.1:n.3916-40_3916-39delinsTC
ENST00000676121.1:n.3959-40_3959-39delinsTC
ENST00000676237.1:c.2032-40_2032-39delinsTC	ENSP00000501828.1:n.2032-40_2032-39delinsTC
ENST00000676416.1:c.1789-40_1789-39delinsTC	ENSP00000501660.1:n.1789-40_1789-39delinsTC
ENST00000676424.1:n.3927-40_3927-39delinsTC
ENST00000676429.1:n.6600-40_6600-39delinsTC
ENST00000374647.9:c.2131-40_2131-39delinsTC	ENSP00000363779.5:n.2131-40_2131-39delinsTC
ENST00000537196.1:c.1084-40_1084-39delinsTC	ENSP00000439367.1:n.1084-40_1084-39delinsTC
NM_003640.3:c.2131-40_2131-39delinsTC , LRG_251t1:c.2131-40_2131-39delinsTC	NP_003631.2:n.2131-40_2131-39delinsTC
XM_005252285.2:c.1789-40_1789-39delinsTC	XP_005252342.1:n.1789-40_1789-39delinsTC
XM_011519136.1:c.2131-40_2131-39delinsTC	XP_011517438.1:n.2131-40_2131-39delinsTC
XM_011519137.1:c.1789-40_1789-39delinsTC	XP_011517439.1:n.1789-40_1789-39delinsTC
XR_929859.1:n.2447-40_2447-39delinsTC
NM_001318360.1:c.1789-40_1789-39delinsTC	NP_001305289.1:n.1789-40_1789-39delinsTC
NM_001330749.1:c.1084-40_1084-39delinsTC	NP_001317678.1:n.1084-40_1084-39delinsTC
NM_003640.4:c.2131-40_2131-39delinsTC	NP_003631.2:n.2131-40_2131-39delinsTC
XM_011519136.2:c.2131-40_2131-39delinsTC	XP_011517438.1:n.2131-40_2131-39delinsTC
XR_929859.3:n.2458-40_2458-39delinsTC
NM_003640.5:c.2131-40_2131-39delinsTC MANE Select	NP_003631.2:n.2131-40_2131-39delinsTC
NM_001318360.2:c.1789-40_1789-39delinsTC	NP_001305289.1:n.1789-40_1789-39delinsTC
NM_001330749.2:c.1084-40_1084-39delinsTC	NP_001317678.1:n.1084-40_1084-39delinsTC