Canonical Allele Identifier: CA1127940125

Gene: ELP1

Linked Data

• gnomAD v3: 9-108917671-C-CGCCGTATCA
• gnomAD v4: 9-108917671-C-CGCCGTATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108917671_108917672insGCCGTATCA , CM000671.2:g.108917671_108917672insGCCGTATCA	GRCh38
NC_000009.11:g.111679951_111679952insGCCGTATCA , CM000671.1:g.111679951_111679952insGCCGTATCA	GRCh37
NC_000009.10:g.110719772_110719773insGCCGTATCA	NCBI36
NG_008788.1:g.21657_21658insTGATACGGC , LRG_251:g.21657_21658insTGATACGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.741-2_741-1insTGATACGGC MANE Select	ENSP00000363779.5:n.741-2_741-1insTGATACG...
ENST00000495759.6:c.552+5170_552+5171insTGATACGGC	ENSP00000433514.2:n.552+5170_552+5171insT...
ENST00000674535.1:c.741-2_741-1insTGATACGGC	ENSP00000502142.1:n.741-2_741-1insTGATACG...
ENST00000674704.1:n.2546_2547insTGATACGGC
ENST00000674836.1:n.1046-2_1046-1insTGATACGGC
ENST00000674890.1:c.741-2_741-1insTGATACGGC	ENSP00000501870.1:n.741-2_741-1insTGATACG...
ENST00000674938.1:c.399-2_399-1insTGATACGGC	ENSP00000502427.1:n.399-2_399-1insTGATACG...
ENST00000674948.1:c.399-2_399-1insTGATACGGC	ENSP00000501602.1:n.399-2_399-1insTGATACG...
ENST00000675052.1:c.741-2_741-1insTGATACGGC	ENSP00000502664.1:n.741-2_741-1insTGATACG...
ENST00000675078.1:c.741-2_741-1insTGATACGGC	ENSP00000501549.1:n.741-2_741-1insTGATACG...
ENST00000675215.1:c.553-2_553-1insTGATACGGC	ENSP00000502558.1:n.553-2_553-1insTGATACG...
ENST00000675233.1:n.2535_2536insTGATACGGC
ENST00000675321.1:c.741-2_741-1insTGATACGGC	ENSP00000502751.1:n.741-2_741-1insTGATACG...
ENST00000675325.1:n.2535_2536insTGATACGGC
ENST00000675335.1:c.741-2_741-1insTGATACGGC	ENSP00000502182.1:n.741-2_741-1insTGATACG...
ENST00000675400.1:n.2412_2413insTGATACGGC
ENST00000675406.1:c.741-2_741-1insTGATACGGC	ENSP00000501893.1:n.741-2_741-1insTGATACG...
ENST00000675458.1:c.834-2_834-1insTGATACGGC	ENSP00000501754.1:n.834-2_834-1insTGATACG...
ENST00000675507.1:n.2535_2536insTGATACGGC
ENST00000675535.1:c.741-2_741-1insTGATACGGC	ENSP00000501667.1:n.741-2_741-1insTGATACG...
ENST00000675566.1:n.2535_2536insTGATACGGC
ENST00000675602.1:n.2538_2539insTGATACGGC
ENST00000675647.1:n.1046-2_1046-1insTGATACGGC
ENST00000675711.1:c.741-2_741-1insTGATACGGC	ENSP00000502485.1:n.741-2_741-1insTGATACG...
ENST00000675727.1:c.741-2_741-1insTGATACGGC	ENSP00000501722.1:n.741-2_741-1insTGATACG...
ENST00000675748.1:n.2373_2374insTGATACGGC
ENST00000675765.1:c.741-2_741-1insTGATACGGC	ENSP00000502640.1:n.741-2_741-1insTGATACG...
ENST00000675825.1:c.741-2_741-1insTGATACGGC	ENSP00000502632.1:n.741-2_741-1insTGATACG...
ENST00000675877.1:n.1046-2_1046-1insTGATACGGC
ENST00000675893.1:c.*1808_*1809insTGATACGGC	ENSP00000502001.1:n.*1808_*1809insTGATACG...
ENST00000675943.1:n.2535_2536insTGATACGGC
ENST00000675979.1:c.650-2_650-1insTGATACGGC	ENSP00000502208.1:n.650-2_650-1insTGATACG...
ENST00000676044.1:c.741-2_741-1insTGATACGGC	ENSP00000502378.1:n.741-2_741-1insTGATACG...
ENST00000676086.1:n.2535_2536insTGATACGGC
ENST00000676121.1:n.2567_2568insTGATACGGC
ENST00000676237.1:c.650-10_650-9insTGATACGGC	ENSP00000501828.1:n.650-10_650-9insTGATAC...
ENST00000676416.1:c.399-2_399-1insTGATACGGC	ENSP00000501660.1:n.399-2_399-1insTGATACG...
ENST00000676424.1:n.2535_2536insTGATACGGC
ENST00000676429.1:n.5208_5209insTGATACGGC
ENST00000374647.9:c.741-2_741-1insTGATACGGC	ENSP00000363779.5:n.741-2_741-1insTGATACG...
ENST00000537196.1:c.-307-2_-307-1insTGATACGGC	ENSP00000439367.1:n.-307-2_-307-1insTGATA...
NM_003640.3:c.741-2_741-1insTGATACGGC , LRG_251t1:c.741-2_741-1insTGATACGGC	NP_003631.2:n.741-2_741-1insTGATACGGC
XM_005252285.2:c.399-2_399-1insTGATACGGC	XP_005252342.1:n.399-2_399-1insTGATACGGC
XM_011519136.1:c.741-2_741-1insTGATACGGC	XP_011517438.1:n.741-2_741-1insTGATACGGC
XM_011519137.1:c.399-2_399-1insTGATACGGC	XP_011517439.1:n.399-2_399-1insTGATACGGC
XR_929859.1:n.1057-2_1057-1insTGATACGGC
NM_001318360.1:c.399-2_399-1insTGATACGGC	NP_001305289.1:n.399-2_399-1insTGATACGGC
NM_001330749.1:c.-307-2_-307-1insTGATACGGC	NP_001317678.1:n.-307-2_-307-1insTGATACGG...
NM_003640.4:c.741-2_741-1insTGATACGGC	NP_003631.2:n.741-2_741-1insTGATACGGC
XM_011519136.2:c.741-2_741-1insTGATACGGC	XP_011517438.1:n.741-2_741-1insTGATACGGC
XR_929859.3:n.1068-2_1068-1insTGATACGGC
NM_003640.5:c.741-2_741-1insTGATACGGC MANE Select	NP_003631.2:n.741-2_741-1insTGATACGGC
NM_001318360.2:c.399-2_399-1insTGATACGGC	NP_001305289.1:n.399-2_399-1insTGATACGGC
NM_001330749.2:c.-307-2_-307-1insTGATACGGC	NP_001317678.1:n.-307-2_-307-1insTGATACGG...