Canonical Allele Identifier: CA5174769

Gene: ELP1

Linked Data

• dbSNP Id: rs768046594
• ExAC: 9:111662509 ACTAT / A
• gnomAD v2: 9-111662509-ACTAT-A
• gnomAD v3: 9-108900229-ACTAT-A
• gnomAD v4: 9-108900229-ACTAT-A
• MyVariant Identifiers: chr9:g.111662510_111662513del (hg19) ; chr9:g.108900231_108900234del (hg38) ; chr9:g.108900230_108900233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108900236_108900239del , CM000671.2:g.108900236_108900239del	GRCh38
NC_000009.11:g.111662516_111662519del , CM000671.1:g.111662516_111662519del	GRCh37
NC_000009.10:g.110702337_110702340del	NCBI36
NG_008788.1:g.39096_39099del , LRG_251:g.39096_39099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2130+27_2130+30del MANE Select	ENSP00000363779.5:n.2130+27_2130+30del
ENST00000495759.6:c.*740+27_*740+30del	ENSP00000433514.2:n.*740+27_*740+30del
ENST00000674535.1:c.2130+27_2130+30del	ENSP00000502142.1:n.2130+27_2130+30del
ENST00000674704.1:n.3937+27_3937+30del
ENST00000674836.1:n.2435+27_2435+30del
ENST00000674890.1:c.2130+27_2130+30del	ENSP00000501870.1:n.2130+27_2130+30del
ENST00000674938.1:c.1788+27_1788+30del	ENSP00000502427.1:n.1788+27_1788+30del
ENST00000674948.1:c.1788+27_1788+30del	ENSP00000501602.1:n.1788+27_1788+30del
ENST00000675052.1:c.2130+27_2130+30del	ENSP00000502664.1:n.2130+27_2130+30del
ENST00000675078.1:c.2130+27_2130+30del	ENSP00000501549.1:n.2130+27_2130+30del
ENST00000675215.1:c.*1354+27_*1354+30del	ENSP00000502558.1:n.*1354+27_*1354+30del
ENST00000675233.1:n.3957+27_3957+30del
ENST00000675321.1:c.2130+27_2130+30del	ENSP00000502751.1:n.2130+27_2130+30del
ENST00000675325.1:n.3926+27_3926+30del
ENST00000675335.1:c.2161+27_2161+30del	ENSP00000502182.1:n.2161+27_2161+30del
ENST00000675400.1:n.3803+27_3803+30del
ENST00000675406.1:c.2130+27_2130+30del	ENSP00000501893.1:n.2130+27_2130+30del
ENST00000675458.1:c.2223+27_2223+30del	ENSP00000501754.1:n.2223+27_2223+30del
ENST00000675507.1:n.3926+27_3926+30del
ENST00000675535.1:c.2130+27_2130+30del	ENSP00000501667.1:n.2130+27_2130+30del
ENST00000675566.1:n.3926+27_3926+30del
ENST00000675602.1:n.5178+27_5178+30del
ENST00000675647.1:n.2435+27_2435+30del
ENST00000675711.1:c.2130+27_2130+30del	ENSP00000502485.1:n.2130+27_2130+30del
ENST00000675727.1:c.2130+27_2130+30del	ENSP00000501722.1:n.2130+27_2130+30del
ENST00000675748.1:n.3764+27_3764+30del
ENST00000675765.1:c.2130+27_2130+30del	ENSP00000502640.1:n.2130+27_2130+30del
ENST00000675825.1:c.2130+27_2130+30del	ENSP00000502632.1:n.2130+27_2130+30del
ENST00000675877.1:n.2435+27_2435+30del
ENST00000675893.1:c.*3199+27_*3199+30del	ENSP00000502001.1:n.*3199+27_*3199+30del
ENST00000675943.1:n.5745+27_5745+30del
ENST00000675979.1:c.*1373+27_*1373+30del	ENSP00000502208.1:n.*1373+27_*1373+30del
ENST00000676044.1:c.2130+27_2130+30del	ENSP00000502378.1:n.2130+27_2130+30del
ENST00000676086.1:n.3915+27_3915+30del
ENST00000676121.1:n.3958+27_3958+30del
ENST00000676237.1:c.2031+27_2031+30del	ENSP00000501828.1:n.2031+27_2031+30del
ENST00000676416.1:c.1788+27_1788+30del	ENSP00000501660.1:n.1788+27_1788+30del
ENST00000676424.1:n.3926+27_3926+30del
ENST00000676429.1:n.6599+27_6599+30del
ENST00000374647.9:c.2130+27_2130+30del	ENSP00000363779.5:n.2130+27_2130+30del
ENST00000537196.1:c.1083+27_1083+30del	ENSP00000439367.1:n.1083+27_1083+30del
NM_003640.3:c.2130+27_2130+30del , LRG_251t1:c.2130+27_2130+30del	NP_003631.2:n.2130+27_2130+30del
XM_005252285.2:c.1788+27_1788+30del	XP_005252342.1:n.1788+27_1788+30del
XM_011519136.1:c.2130+27_2130+30del	XP_011517438.1:n.2130+27_2130+30del
XM_011519137.1:c.1788+27_1788+30del	XP_011517439.1:n.1788+27_1788+30del
XR_929859.1:n.2446+27_2446+30del
NM_001318360.1:c.1788+27_1788+30del	NP_001305289.1:n.1788+27_1788+30del
NM_001330749.1:c.1083+27_1083+30del	NP_001317678.1:n.1083+27_1083+30del
NM_003640.4:c.2130+27_2130+30del	NP_003631.2:n.2130+27_2130+30del
XM_011519136.2:c.2130+27_2130+30del	XP_011517438.1:n.2130+27_2130+30del
XR_929859.3:n.2457+27_2457+30del
NM_003640.5:c.2130+27_2130+30del MANE Select	NP_003631.2:n.2130+27_2130+30del
NM_001318360.2:c.1788+27_1788+30del	NP_001305289.1:n.1788+27_1788+30del
NM_001330749.2:c.1083+27_1083+30del	NP_001317678.1:n.1083+27_1083+30del