Canonical Allele Identifier: CA197521468

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1231136
• ClinVar RCV Id: RCV001609792
• dbSNP Id: rs34189987
• gnomAD v2: 9-111679747-CAA-C
• gnomAD v3: 9-108917467-CAA-C
• gnomAD v4: 9-108917467-CAA-C
• MyVariant Identifiers: chr9:g.111679749_111679750del (hg19) ; chr9:g.111679748_111679749del (hg19) ; chr9:g.108917469_108917470del (hg38) ; chr9:g.108917468_108917469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108917484_108917485del , CM000671.2:g.108917484_108917485del	GRCh38
NC_000009.11:g.111679764_111679765del , CM000671.1:g.111679764_111679765del	GRCh37
NC_000009.10:g.110719585_110719586del	NCBI36
NG_008788.1:g.21860_21861del , LRG_251:g.21860_21861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.864+78_864+79del MANE Select	ENSP00000363779.5:n.864+78_864+79del
ENST00000495759.6:c.552+5373_552+5374del	ENSP00000433514.2:n.552+5373_552+5374del
ENST00000674535.1:c.864+78_864+79del	ENSP00000502142.1:n.864+78_864+79del
ENST00000674704.1:n.2671+78_2671+79del
ENST00000674836.1:n.1169+78_1169+79del
ENST00000674890.1:c.864+78_864+79del	ENSP00000501870.1:n.864+78_864+79del
ENST00000674938.1:c.522+78_522+79del	ENSP00000502427.1:n.522+78_522+79del
ENST00000674948.1:c.522+78_522+79del	ENSP00000501602.1:n.522+78_522+79del
ENST00000675052.1:c.864+78_864+79del	ENSP00000502664.1:n.864+78_864+79del
ENST00000675078.1:c.864+78_864+79del	ENSP00000501549.1:n.864+78_864+79del
ENST00000675215.1:c.*88+78_*88+79del	ENSP00000502558.1:n.*88+78_*88+79del
ENST00000675233.1:n.2660+78_2660+79del
ENST00000675321.1:c.864+78_864+79del	ENSP00000502751.1:n.864+78_864+79del
ENST00000675325.1:n.2660+78_2660+79del
ENST00000675335.1:c.864+78_864+79del	ENSP00000502182.1:n.864+78_864+79del
ENST00000675400.1:n.2537+78_2537+79del
ENST00000675406.1:c.864+78_864+79del	ENSP00000501893.1:n.864+78_864+79del
ENST00000675458.1:c.957+78_957+79del	ENSP00000501754.1:n.957+78_957+79del
ENST00000675507.1:n.2660+78_2660+79del
ENST00000675535.1:c.864+78_864+79del	ENSP00000501667.1:n.864+78_864+79del
ENST00000675566.1:n.2660+78_2660+79del
ENST00000675602.1:n.2741_2742del
ENST00000675647.1:n.1169+78_1169+79del
ENST00000675711.1:c.864+78_864+79del	ENSP00000502485.1:n.864+78_864+79del
ENST00000675727.1:c.864+78_864+79del	ENSP00000501722.1:n.864+78_864+79del
ENST00000675748.1:n.2498+78_2498+79del
ENST00000675765.1:c.864+78_864+79del	ENSP00000502640.1:n.864+78_864+79del
ENST00000675825.1:c.864+78_864+79del	ENSP00000502632.1:n.864+78_864+79del
ENST00000675877.1:n.1169+78_1169+79del
ENST00000675893.1:c.*1933+78_*1933+79del	ENSP00000502001.1:n.*1933+78_*1933+79del
ENST00000675943.1:n.2660+78_2660+79del
ENST00000675979.1:c.*107+78_*107+79del	ENSP00000502208.1:n.*107+78_*107+79del
ENST00000676044.1:c.864+78_864+79del	ENSP00000502378.1:n.864+78_864+79del
ENST00000676086.1:n.2660+78_2660+79del
ENST00000676121.1:n.2692+78_2692+79del
ENST00000676237.1:c.765+78_765+79del	ENSP00000501828.1:n.765+78_765+79del
ENST00000676416.1:c.522+78_522+79del	ENSP00000501660.1:n.522+78_522+79del
ENST00000676424.1:n.2660+78_2660+79del
ENST00000676429.1:n.5333+78_5333+79del
ENST00000374647.9:c.864+78_864+79del	ENSP00000363779.5:n.864+78_864+79del
ENST00000537196.1:c.-184+78_-184+79del	ENSP00000439367.1:n.-184+78_-184+79del
NM_003640.3:c.864+78_864+79del , LRG_251t1:c.864+78_864+79del	NP_003631.2:n.864+78_864+79del
XM_005252285.2:c.522+78_522+79del	XP_005252342.1:n.522+78_522+79del
XM_011519136.1:c.864+78_864+79del	XP_011517438.1:n.864+78_864+79del
XM_011519137.1:c.522+78_522+79del	XP_011517439.1:n.522+78_522+79del
XR_929859.1:n.1180+78_1180+79del
NM_001318360.1:c.522+78_522+79del	NP_001305289.1:n.522+78_522+79del
NM_001330749.1:c.-184+78_-184+79del	NP_001317678.1:n.-184+78_-184+79del
NM_003640.4:c.864+78_864+79del	NP_003631.2:n.864+78_864+79del
XM_011519136.2:c.864+78_864+79del	XP_011517438.1:n.864+78_864+79del
XR_929859.3:n.1191+78_1191+79del
NM_003640.5:c.864+78_864+79del MANE Select	NP_003631.2:n.864+78_864+79del
NM_001318360.2:c.522+78_522+79del	NP_001305289.1:n.522+78_522+79del
NM_001330749.2:c.-184+78_-184+79del	NP_001317678.1:n.-184+78_-184+79del