Canonical Allele Identifier: CA1871332995

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889432_108889433delinsAC , CM000671.2:g.108889432_108889433delinsAC	GRCh38
NC_000009.11:g.111651712_111651713delinsAC , CM000671.1:g.111651712_111651713delinsAC	GRCh37
NC_000009.10:g.110691533_110691534delinsAC	NCBI36
NG_008788.1:g.49896_49897delinsGT , LRG_251:g.49896_49897delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3161-40_3161-39delinsGT MANE Select	ENSP00000363779.5:n.3161-40_3161-39delinsGT
ENST00000495759.6:c.*1771-40_*1771-39delinsGT	ENSP00000433514.2:n.*1771-40_*1771-39delinsGT
ENST00000674535.1:c.3161-40_3161-39delinsGT	ENSP00000502142.1:n.3161-40_3161-39delinsGT
ENST00000674704.1:n.6246-40_6246-39delinsGT
ENST00000674836.1:n.3774-40_3774-39delinsGT
ENST00000674890.1:c.*396-40_*396-39delinsGT	ENSP00000501870.1:n.*396-40_*396-39delinsGT
ENST00000674938.1:c.2819-40_2819-39delinsGT	ENSP00000502427.1:n.2819-40_2819-39delinsGT
ENST00000674948.1:c.2819-40_2819-39delinsGT	ENSP00000501602.1:n.2819-40_2819-39delinsGT
ENST00000675052.1:c.3161-40_3161-39delinsGT	ENSP00000502664.1:n.3161-40_3161-39delinsGT
ENST00000675078.1:c.3161-40_3161-39delinsGT	ENSP00000501549.1:n.3161-40_3161-39delinsGT
ENST00000675215.1:c.*2385-40_*2385-39delinsGT	ENSP00000502558.1:n.*2385-40_*2385-39delinsGT
ENST00000675233.1:n.4988-40_4988-39delinsGT
ENST00000675321.1:c.3161-40_3161-39delinsGT	ENSP00000502751.1:n.3161-40_3161-39delinsGT
ENST00000675325.1:n.5118-40_5118-39delinsGT
ENST00000675335.1:c.3192-40_3192-39delinsGT	ENSP00000502182.1:n.3192-40_3192-39delinsGT
ENST00000675400.1:n.4896-40_4896-39delinsGT
ENST00000675406.1:c.3161-40_3161-39delinsGT	ENSP00000501893.1:n.3161-40_3161-39delinsGT
ENST00000675458.1:c.3254-40_3254-39delinsGT	ENSP00000501754.1:n.3254-40_3254-39delinsGT
ENST00000675507.1:n.4957-40_4957-39delinsGT
ENST00000675535.1:c.*788-40_*788-39delinsGT	ENSP00000501667.1:n.*788-40_*788-39delinsGT
ENST00000675566.1:n.5019-40_5019-39delinsGT
ENST00000675602.1:n.6209-40_6209-39delinsGT
ENST00000675647.1:n.4325-40_4325-39delinsGT
ENST00000675711.1:c.3161-40_3161-39delinsGT	ENSP00000502485.1:n.3161-40_3161-39delinsGT
ENST00000675727.1:c.3161-40_3161-39delinsGT	ENSP00000501722.1:n.3161-40_3161-39delinsGT
ENST00000675748.1:n.4795-40_4795-39delinsGT
ENST00000675765.1:c.*544-40_*544-39delinsGT	ENSP00000502640.1:n.*544-40_*544-39delinsGT
ENST00000675825.1:c.3161-40_3161-39delinsGT	ENSP00000502632.1:n.3161-40_3161-39delinsGT
ENST00000675877.1:n.3466-40_3466-39delinsGT
ENST00000675893.1:c.*4230-40_*4230-39delinsGT	ENSP00000502001.1:n.*4230-40_*4230-39delinsGT
ENST00000675943.1:n.6776-40_6776-39delinsGT
ENST00000675979.1:c.*2404-40_*2404-39delinsGT	ENSP00000502208.1:n.*2404-40_*2404-39delinsGT
ENST00000676044.1:c.*821-40_*821-39delinsGT	ENSP00000502378.1:n.*821-40_*821-39delinsGT
ENST00000676086.1:n.4946-40_4946-39delinsGT
ENST00000676121.1:n.4989-40_4989-39delinsGT
ENST00000676237.1:c.3062-40_3062-39delinsGT	ENSP00000501828.1:n.3062-40_3062-39delinsGT
ENST00000676416.1:c.2819-40_2819-39delinsGT	ENSP00000501660.1:n.2819-40_2819-39delinsGT
ENST00000676424.1:n.4957-40_4957-39delinsGT
ENST00000676429.1:n.7630-40_7630-39delinsGT
ENST00000374647.9:c.3161-40_3161-39delinsGT	ENSP00000363779.5:n.3161-40_3161-39delinsGT
ENST00000467959.1:n.41-40_41-39delinsGT
ENST00000495759.5:c.301-40_301-39delinsGT
ENST00000537196.1:c.2114-40_2114-39delinsGT	ENSP00000439367.1:n.2114-40_2114-39delinsGT
NM_003640.3:c.3161-40_3161-39delinsGT , LRG_251t1:c.3161-40_3161-39delinsGT	NP_003631.2:n.3161-40_3161-39delinsGT
XM_005252285.2:c.2819-40_2819-39delinsGT	XP_005252342.1:n.2819-40_2819-39delinsGT
XM_011519136.1:c.3161-40_3161-39delinsGT	XP_011517438.1:n.3161-40_3161-39delinsGT
XM_011519137.1:c.2819-40_2819-39delinsGT	XP_011517439.1:n.2819-40_2819-39delinsGT
NM_001318360.1:c.2819-40_2819-39delinsGT	NP_001305289.1:n.2819-40_2819-39delinsGT
NM_001330749.1:c.2114-40_2114-39delinsGT	NP_001317678.1:n.2114-40_2114-39delinsGT
NM_003640.4:c.3161-40_3161-39delinsGT	NP_003631.2:n.3161-40_3161-39delinsGT
XM_011519136.2:c.3161-40_3161-39delinsGT	XP_011517438.1:n.3161-40_3161-39delinsGT
XR_929859.3:n.3550-40_3550-39delinsGT
NM_003640.5:c.3161-40_3161-39delinsGT MANE Select	NP_003631.2:n.3161-40_3161-39delinsGT
NM_001318360.2:c.2819-40_2819-39delinsGT	NP_001305289.1:n.2819-40_2819-39delinsGT
NM_001330749.2:c.2114-40_2114-39delinsGT	NP_001317678.1:n.2114-40_2114-39delinsGT