Canonical Allele Identifier: CA2691095963

Gene: ELP1

Linked Data

• gnomAD v4: 9-108900161-AAAGAATAAGAAAGCCTAAAATACAACCTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108900168_108900197del , CM000671.2:g.108900168_108900197del	GRCh38
NC_000009.11:g.111662448_111662477del , CM000671.1:g.111662448_111662477del	GRCh37
NC_000009.10:g.110702269_110702298del	NCBI36
NG_008788.1:g.39138_39167del , LRG_251:g.39138_39167del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2130+69_2130+98del MANE Select	ENSP00000363779.5:n.2130+69_2130+98del
ENST00000495759.6:c.*740+69_*740+98del	ENSP00000433514.2:n.*740+69_*740+98del
ENST00000674535.1:c.2130+69_2130+98del	ENSP00000502142.1:n.2130+69_2130+98del
ENST00000674704.1:n.3937+69_3937+98del
ENST00000674836.1:n.2435+69_2435+98del
ENST00000674890.1:c.2130+69_2130+98del	ENSP00000501870.1:n.2130+69_2130+98del
ENST00000674938.1:c.1788+69_1788+98del	ENSP00000502427.1:n.1788+69_1788+98del
ENST00000674948.1:c.1788+69_1788+98del	ENSP00000501602.1:n.1788+69_1788+98del
ENST00000675052.1:c.2130+69_2130+98del	ENSP00000502664.1:n.2130+69_2130+98del
ENST00000675078.1:c.2130+69_2130+98del	ENSP00000501549.1:n.2130+69_2130+98del
ENST00000675215.1:c.*1354+69_*1354+98del	ENSP00000502558.1:n.*1354+69_*1354+98del
ENST00000675233.1:n.3957+69_3957+98del
ENST00000675321.1:c.2130+69_2130+98del	ENSP00000502751.1:n.2130+69_2130+98del
ENST00000675325.1:n.3926+69_3926+98del
ENST00000675335.1:c.2161+69_2161+98del	ENSP00000502182.1:n.2161+69_2161+98del
ENST00000675400.1:n.3803+69_3803+98del
ENST00000675406.1:c.2130+69_2130+98del	ENSP00000501893.1:n.2130+69_2130+98del
ENST00000675458.1:c.2223+69_2223+98del	ENSP00000501754.1:n.2223+69_2223+98del
ENST00000675507.1:n.3926+69_3926+98del
ENST00000675535.1:c.2130+69_2130+98del	ENSP00000501667.1:n.2130+69_2130+98del
ENST00000675566.1:n.3926+69_3926+98del
ENST00000675602.1:n.5178+69_5178+98del
ENST00000675647.1:n.2435+69_2435+98del
ENST00000675711.1:c.2130+69_2130+98del	ENSP00000502485.1:n.2130+69_2130+98del
ENST00000675727.1:c.2130+69_2130+98del	ENSP00000501722.1:n.2130+69_2130+98del
ENST00000675748.1:n.3764+69_3764+98del
ENST00000675765.1:c.2130+69_2130+98del	ENSP00000502640.1:n.2130+69_2130+98del
ENST00000675825.1:c.2130+69_2130+98del	ENSP00000502632.1:n.2130+69_2130+98del
ENST00000675877.1:n.2435+69_2435+98del
ENST00000675893.1:c.*3199+69_*3199+98del	ENSP00000502001.1:n.*3199+69_*3199+98del
ENST00000675943.1:n.5745+69_5745+98del
ENST00000675979.1:c.*1373+69_*1373+98del	ENSP00000502208.1:n.*1373+69_*1373+98del
ENST00000676044.1:c.2130+69_2130+98del	ENSP00000502378.1:n.2130+69_2130+98del
ENST00000676086.1:n.3915+69_3915+98del
ENST00000676121.1:n.3958+69_3958+98del
ENST00000676237.1:c.2031+69_2031+98del	ENSP00000501828.1:n.2031+69_2031+98del
ENST00000676416.1:c.1788+69_1788+98del	ENSP00000501660.1:n.1788+69_1788+98del
ENST00000676424.1:n.3926+69_3926+98del
ENST00000676429.1:n.6599+69_6599+98del
ENST00000374647.9:c.2130+69_2130+98del	ENSP00000363779.5:n.2130+69_2130+98del
ENST00000537196.1:c.1083+69_1083+98del	ENSP00000439367.1:n.1083+69_1083+98del
NM_003640.3:c.2130+69_2130+98del , LRG_251t1:c.2130+69_2130+98del	NP_003631.2:n.2130+69_2130+98del
XM_005252285.2:c.1788+69_1788+98del	XP_005252342.1:n.1788+69_1788+98del
XM_011519136.1:c.2130+69_2130+98del	XP_011517438.1:n.2130+69_2130+98del
XM_011519137.1:c.1788+69_1788+98del	XP_011517439.1:n.1788+69_1788+98del
XR_929859.1:n.2446+69_2446+98del
NM_001318360.1:c.1788+69_1788+98del	NP_001305289.1:n.1788+69_1788+98del
NM_001330749.1:c.1083+69_1083+98del	NP_001317678.1:n.1083+69_1083+98del
NM_003640.4:c.2130+69_2130+98del	NP_003631.2:n.2130+69_2130+98del
XM_011519136.2:c.2130+69_2130+98del	XP_011517438.1:n.2130+69_2130+98del
XR_929859.3:n.2457+69_2457+98del
NM_003640.5:c.2130+69_2130+98del MANE Select	NP_003631.2:n.2130+69_2130+98del
NM_001318360.2:c.1788+69_1788+98del	NP_001305289.1:n.1788+69_1788+98del
NM_001330749.2:c.1083+69_1083+98del	NP_001317678.1:n.1083+69_1083+98del