Canonical Allele Identifier: CA589606486

Gene: ELP1

Linked Data

• dbSNP Id: rs1360727670
• gnomAD v2: 9-111662543-TAA-T
• gnomAD v4: 9-108900263-TAA-T
• MyVariant Identifiers: chr9:g.111662544_111662545del (hg19) ; chr9:g.108900264_108900265del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108900264_108900265del , CM000671.2:g.108900264_108900265del	GRCh38
NC_000009.11:g.111662544_111662545del , CM000671.1:g.111662544_111662545del	GRCh37
NC_000009.10:g.110702365_110702366del	NCBI36
NG_008788.1:g.39064_39065del , LRG_251:g.39064_39065del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2125_2126del MANE Select	ENSP00000363779.5:p.Leu709ThrfsTer30
ENST00000495759.6:c.*735_*736del	ENSP00000433514.2:n.*735_*736del
ENST00000674535.1:c.2125_2126del	ENSP00000502142.1:p.Leu709ThrfsTer30
ENST00000674704.1:n.3932_3933del
ENST00000674836.1:n.2430_2431del
ENST00000674890.1:c.2125_2126del	ENSP00000501870.1:p.Leu709ThrfsTer30
ENST00000674938.1:c.1783_1784del	ENSP00000502427.1:p.Leu595ThrfsTer30
ENST00000674948.1:c.1783_1784del	ENSP00000501602.1:p.Leu595ThrfsTer30
ENST00000675052.1:c.2125_2126del	ENSP00000502664.1:p.Leu709ThrfsTer30
ENST00000675078.1:c.2125_2126del	ENSP00000501549.1:p.Leu709ThrfsTer30
ENST00000675215.1:c.*1349_*1350del	ENSP00000502558.1:n.*1349_*1350del
ENST00000675233.1:n.3952_3953del
ENST00000675321.1:c.2125_2126del	ENSP00000502751.1:p.Leu709ThrfsTer30
ENST00000675325.1:n.3921_3922del
ENST00000675335.1:c.2156_2157del	ENSP00000502182.1:n.2156_2157del
ENST00000675400.1:n.3798_3799del
ENST00000675406.1:c.2125_2126del	ENSP00000501893.1:p.Leu709ThrfsTer30
ENST00000675458.1:c.2218_2219del	ENSP00000501754.1:n.2218_2219del
ENST00000675507.1:n.3921_3922del
ENST00000675535.1:c.2125_2126del	ENSP00000501667.1:p.Leu709ThrfsTer30
ENST00000675566.1:n.3921_3922del
ENST00000675602.1:n.5173_5174del
ENST00000675647.1:n.2430_2431del
ENST00000675711.1:c.2125_2126del	ENSP00000502485.1:p.Leu709ThrfsTer30
ENST00000675727.1:c.2125_2126del	ENSP00000501722.1:p.Leu709ThrfsTer30
ENST00000675748.1:n.3759_3760del
ENST00000675765.1:c.2125_2126del	ENSP00000502640.1:p.Leu709ThrfsTer30
ENST00000675825.1:c.2125_2126del	ENSP00000502632.1:p.Leu709ThrfsTer30
ENST00000675877.1:n.2430_2431del
ENST00000675893.1:c.*3194_*3195del	ENSP00000502001.1:n.*3194_*3195del
ENST00000675943.1:n.5740_5741del
ENST00000675979.1:c.*1368_*1369del	ENSP00000502208.1:n.*1368_*1369del
ENST00000676044.1:c.2125_2126del	ENSP00000502378.1:p.Leu709ThrfsTer30
ENST00000676086.1:n.3910_3911del
ENST00000676121.1:n.3953_3954del
ENST00000676237.1:c.2026_2027del	ENSP00000501828.1:p.Leu676ThrfsTer30
ENST00000676416.1:c.1783_1784del	ENSP00000501660.1:p.Leu595ThrfsTer30
ENST00000676424.1:n.3921_3922del
ENST00000676429.1:n.6594_6595del
ENST00000374647.9:c.2125_2126del	ENSP00000363779.5:p.Leu709ThrfsTer30
ENST00000537196.1:c.1078_1079del	ENSP00000439367.1:p.Leu360ThrfsTer30
NM_003640.3:c.2125_2126del , LRG_251t1:c.2125_2126del	NP_003631.2:p.Leu709ThrfsTer30
XM_005252285.2:c.1783_1784del	XP_005252342.1:p.Leu595ThrfsTer30
XM_011519136.1:c.2125_2126del	XP_011517438.1:p.Leu709ThrfsTer30
XM_011519137.1:c.1783_1784del	XP_011517439.1:p.Leu595ThrfsTer30
XR_929859.1:n.2441_2442del
NM_001318360.1:c.1783_1784del	NP_001305289.1:p.Leu595ThrfsTer30
NM_001330749.1:c.1078_1079del	NP_001317678.1:p.Leu360ThrfsTer30
NM_003640.4:c.2125_2126del	NP_003631.2:p.Leu709ThrfsTer30
XM_011519136.2:c.2125_2126del	XP_011517438.1:p.Leu709ThrfsTer30
XR_929859.3:n.2452_2453del
NM_003640.5:c.2125_2126del MANE Select	NP_003631.2:p.Leu709ThrfsTer30
NM_001318360.2:c.1783_1784del	NP_001305289.1:p.Leu595ThrfsTer30
NM_001330749.2:c.1078_1079del	NP_001317678.1:p.Leu360ThrfsTer30