Canonical Allele Identifier: CA5174549

Gene: ELP1

Linked Data

• ClinVar Variation Id: 2164954
• ClinVar RCV Id: RCV003088299
• dbSNP Id: rs759864848
• ExAC: 9:111656359 TTAA / T
• gnomAD v2: 9-111656359-TTAA-T
• gnomAD v3: 9-108894079-TTAA-T
• gnomAD v4: 9-108894079-TTAA-T
• MyVariant Identifiers: chr9:g.111656360_111656362del (hg19) ; chr9:g.108894080_108894082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894081_108894083del , CM000671.2:g.108894081_108894083del	GRCh38
NC_000009.11:g.111656361_111656363del , CM000671.1:g.111656361_111656363del	GRCh37
NC_000009.10:g.110696182_110696184del	NCBI36
NG_008788.1:g.45247_45249del , LRG_251:g.45247_45249del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2737-16_2737-14del MANE Select	ENSP00000363779.5:n.2737-16_2737-14del
ENST00000495759.6:c.*1347-16_*1347-14del	ENSP00000433514.2:n.*1347-16_*1347-14del
ENST00000674535.1:c.2737-16_2737-14del	ENSP00000502142.1:n.2737-16_2737-14del
ENST00000674704.1:n.5822-16_5822-14del
ENST00000674836.1:n.3350-16_3350-14del
ENST00000674890.1:c.2743_2745del	ENSP00000501870.1:p.Leu915del
ENST00000674938.1:c.2395-16_2395-14del	ENSP00000502427.1:n.2395-16_2395-14del
ENST00000674948.1:c.2395-16_2395-14del	ENSP00000501602.1:n.2395-16_2395-14del
ENST00000675052.1:c.2737-16_2737-14del	ENSP00000502664.1:n.2737-16_2737-14del
ENST00000675078.1:c.2737-16_2737-14del	ENSP00000501549.1:n.2737-16_2737-14del
ENST00000675215.1:c.*1961-16_*1961-14del	ENSP00000502558.1:n.*1961-16_*1961-14del
ENST00000675233.1:n.4564-16_4564-14del
ENST00000675321.1:c.2737-16_2737-14del	ENSP00000502751.1:n.2737-16_2737-14del
ENST00000675325.1:n.4694-16_4694-14del
ENST00000675335.1:c.2768-16_2768-14del	ENSP00000502182.1:n.2768-16_2768-14del
ENST00000675400.1:n.4472-16_4472-14del
ENST00000675406.1:c.2737-16_2737-14del	ENSP00000501893.1:n.2737-16_2737-14del
ENST00000675458.1:c.2830-16_2830-14del	ENSP00000501754.1:n.2830-16_2830-14del
ENST00000675507.1:n.4533-16_4533-14del
ENST00000675535.1:c.*364-16_*364-14del	ENSP00000501667.1:n.*364-16_*364-14del
ENST00000675566.1:n.4595-16_4595-14del
ENST00000675602.1:n.5785-16_5785-14del
ENST00000675647.1:n.3042-16_3042-14del
ENST00000675711.1:c.2737-16_2737-14del	ENSP00000502485.1:n.2737-16_2737-14del
ENST00000675727.1:c.2737-16_2737-14del	ENSP00000501722.1:n.2737-16_2737-14del
ENST00000675748.1:n.4371-16_4371-14del
ENST00000675765.1:c.*120-16_*120-14del	ENSP00000502640.1:n.*120-16_*120-14del
ENST00000675825.1:c.2737-16_2737-14del	ENSP00000502632.1:n.2737-16_2737-14del
ENST00000675877.1:n.3042-16_3042-14del
ENST00000675893.1:c.*3806-16_*3806-14del	ENSP00000502001.1:n.*3806-16_*3806-14del
ENST00000675943.1:n.6352-16_6352-14del
ENST00000675979.1:c.*1980-16_*1980-14del	ENSP00000502208.1:n.*1980-16_*1980-14del
ENST00000676044.1:c.*397-16_*397-14del	ENSP00000502378.1:n.*397-16_*397-14del
ENST00000676086.1:n.4522-16_4522-14del
ENST00000676121.1:n.4565-16_4565-14del
ENST00000676237.1:c.2638-16_2638-14del	ENSP00000501828.1:n.2638-16_2638-14del
ENST00000676416.1:c.2395-16_2395-14del	ENSP00000501660.1:n.2395-16_2395-14del
ENST00000676424.1:n.4533-16_4533-14del
ENST00000676429.1:n.7206-16_7206-14del
ENST00000374647.9:c.2737-16_2737-14del	ENSP00000363779.5:n.2737-16_2737-14del
ENST00000537196.1:c.1690-16_1690-14del	ENSP00000439367.1:n.1690-16_1690-14del
NM_003640.3:c.2737-16_2737-14del , LRG_251t1:c.2737-16_2737-14del	NP_003631.2:n.2737-16_2737-14del
XM_005252285.2:c.2395-16_2395-14del	XP_005252342.1:n.2395-16_2395-14del
XM_011519136.1:c.2737-16_2737-14del	XP_011517438.1:n.2737-16_2737-14del
XM_011519137.1:c.2395-16_2395-14del	XP_011517439.1:n.2395-16_2395-14del
XR_929859.1:n.3115-16_3115-14del
NM_001318360.1:c.2395-16_2395-14del	NP_001305289.1:n.2395-16_2395-14del
NM_001330749.1:c.1690-16_1690-14del	NP_001317678.1:n.1690-16_1690-14del
NM_003640.4:c.2737-16_2737-14del	NP_003631.2:n.2737-16_2737-14del
XM_011519136.2:c.2737-16_2737-14del	XP_011517438.1:n.2737-16_2737-14del
XR_929859.3:n.3126-16_3126-14del
NM_003640.5:c.2737-16_2737-14del MANE Select	NP_003631.2:n.2737-16_2737-14del
NM_001318360.2:c.2395-16_2395-14del	NP_001305289.1:n.2395-16_2395-14del
NM_001330749.2:c.1690-16_1690-14del	NP_001317678.1:n.1690-16_1690-14del