Canonical Allele Identifier: CA1871337727

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108900170_108900178delinsGAAAGCCTA , CM000671.2:g.108900170_108900178delinsGAAAGCCTA	GRCh38
NC_000009.11:g.111662450_111662458delinsGAAAGCCTA , CM000671.1:g.111662450_111662458delinsGAAAGCCTA	GRCh37
NC_000009.10:g.110702271_110702279delinsGAAAGCCTA	NCBI36
NG_008788.1:g.39151_39159delinsTAGGCTTTC , LRG_251:g.39151_39159delinsTAGGCTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2130+82_2130+90delinsTAGGCTTTC MANE Select	ENSP00000363779.5:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000495759.6:c.*740+82_*740+90delinsTAGGCTTTC	ENSP00000433514.2:n.*740+82_*740+90delinsTAGGCTTTC
ENST00000674535.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000502142.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000674704.1:n.3937+82_3937+90delinsTAGGCTTTC
ENST00000674836.1:n.2435+82_2435+90delinsTAGGCTTTC
ENST00000674890.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000501870.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000674938.1:c.1788+82_1788+90delinsTAGGCTTTC	ENSP00000502427.1:n.1788+82_1788+90delinsTAGGCTTTC
ENST00000674948.1:c.1788+82_1788+90delinsTAGGCTTTC	ENSP00000501602.1:n.1788+82_1788+90delinsTAGGCTTTC
ENST00000675052.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000502664.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000675078.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000501549.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000675215.1:c.*1354+82_*1354+90delinsTAGGCTTTC	ENSP00000502558.1:n.*1354+82_*1354+90delinsTAGGCTTTC
ENST00000675233.1:n.3957+82_3957+90delinsTAGGCTTTC
ENST00000675321.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000502751.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000675325.1:n.3926+82_3926+90delinsTAGGCTTTC
ENST00000675335.1:c.2161+82_2161+90delinsTAGGCTTTC	ENSP00000502182.1:n.2161+82_2161+90delinsTAGGCTTTC
ENST00000675400.1:n.3803+82_3803+90delinsTAGGCTTTC
ENST00000675406.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000501893.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000675458.1:c.2223+82_2223+90delinsTAGGCTTTC	ENSP00000501754.1:n.2223+82_2223+90delinsTAGGCTTTC
ENST00000675507.1:n.3926+82_3926+90delinsTAGGCTTTC
ENST00000675535.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000501667.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000675566.1:n.3926+82_3926+90delinsTAGGCTTTC
ENST00000675602.1:n.5178+82_5178+90delinsTAGGCTTTC
ENST00000675647.1:n.2435+82_2435+90delinsTAGGCTTTC
ENST00000675711.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000502485.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000675727.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000501722.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000675748.1:n.3764+82_3764+90delinsTAGGCTTTC
ENST00000675765.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000502640.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000675825.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000502632.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000675877.1:n.2435+82_2435+90delinsTAGGCTTTC
ENST00000675893.1:c.*3199+82_*3199+90delinsTAGGCTTTC	ENSP00000502001.1:n.*3199+82_*3199+90delinsTAGGCTTTC
ENST00000675943.1:n.5745+82_5745+90delinsTAGGCTTTC
ENST00000675979.1:c.*1373+82_*1373+90delinsTAGGCTTTC	ENSP00000502208.1:n.*1373+82_*1373+90delinsTAGGCTTTC
ENST00000676044.1:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000502378.1:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000676086.1:n.3915+82_3915+90delinsTAGGCTTTC
ENST00000676121.1:n.3958+82_3958+90delinsTAGGCTTTC
ENST00000676237.1:c.2031+82_2031+90delinsTAGGCTTTC	ENSP00000501828.1:n.2031+82_2031+90delinsTAGGCTTTC
ENST00000676416.1:c.1788+82_1788+90delinsTAGGCTTTC	ENSP00000501660.1:n.1788+82_1788+90delinsTAGGCTTTC
ENST00000676424.1:n.3926+82_3926+90delinsTAGGCTTTC
ENST00000676429.1:n.6599+82_6599+90delinsTAGGCTTTC
ENST00000374647.9:c.2130+82_2130+90delinsTAGGCTTTC	ENSP00000363779.5:n.2130+82_2130+90delinsTAGGCTTTC
ENST00000537196.1:c.1083+82_1083+90delinsTAGGCTTTC	ENSP00000439367.1:n.1083+82_1083+90delinsTAGGCTTTC
NM_003640.3:c.2130+82_2130+90delinsTAGGCTTTC , LRG_251t1:c.2130+82_2130+90delinsTAGGCTTTC	NP_003631.2:n.2130+82_2130+90delinsTAGGCTTTC
XM_005252285.2:c.1788+82_1788+90delinsTAGGCTTTC	XP_005252342.1:n.1788+82_1788+90delinsTAGGCTTTC
XM_011519136.1:c.2130+82_2130+90delinsTAGGCTTTC	XP_011517438.1:n.2130+82_2130+90delinsTAGGCTTTC
XM_011519137.1:c.1788+82_1788+90delinsTAGGCTTTC	XP_011517439.1:n.1788+82_1788+90delinsTAGGCTTTC
XR_929859.1:n.2446+82_2446+90delinsTAGGCTTTC
NM_001318360.1:c.1788+82_1788+90delinsTAGGCTTTC	NP_001305289.1:n.1788+82_1788+90delinsTAGGCTTTC
NM_001330749.1:c.1083+82_1083+90delinsTAGGCTTTC	NP_001317678.1:n.1083+82_1083+90delinsTAGGCTTTC
NM_003640.4:c.2130+82_2130+90delinsTAGGCTTTC	NP_003631.2:n.2130+82_2130+90delinsTAGGCTTTC
XM_011519136.2:c.2130+82_2130+90delinsTAGGCTTTC	XP_011517438.1:n.2130+82_2130+90delinsTAGGCTTTC
XR_929859.3:n.2457+82_2457+90delinsTAGGCTTTC
NM_003640.5:c.2130+82_2130+90delinsTAGGCTTTC MANE Select	NP_003631.2:n.2130+82_2130+90delinsTAGGCTTTC
NM_001318360.2:c.1788+82_1788+90delinsTAGGCTTTC	NP_001305289.1:n.1788+82_1788+90delinsTAGGCTTTC
NM_001330749.2:c.1083+82_1083+90delinsTAGGCTTTC	NP_001317678.1:n.1083+82_1083+90delinsTAGGCTTTC