Canonical Allele Identifier: CA2691117679

Gene: ELP1

Linked Data

• gnomAD v4: 9-108917805-GTTTTAAATCCCATGTGTCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108917808_108917827del , CM000671.2:g.108917808_108917827del	GRCh38
NC_000009.11:g.111680088_111680107del , CM000671.1:g.111680088_111680107del	GRCh37
NC_000009.10:g.110719909_110719928del	NCBI36
NG_008788.1:g.21504_21523del , LRG_251:g.21504_21523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.741-155_741-136del MANE Select	ENSP00000363779.5:n.741-155_741-136del
ENST00000495759.6:c.552+5017_552+5036del	ENSP00000433514.2:n.552+5017_552+5036del
ENST00000674535.1:c.741-155_741-136del	ENSP00000502142.1:n.741-155_741-136del
ENST00000674704.1:n.2393_2412del
ENST00000674836.1:n.1046-155_1046-136del
ENST00000674890.1:c.741-155_741-136del	ENSP00000501870.1:n.741-155_741-136del
ENST00000674938.1:c.399-155_399-136del	ENSP00000502427.1:n.399-155_399-136del
ENST00000674948.1:c.399-155_399-136del	ENSP00000501602.1:n.399-155_399-136del
ENST00000675052.1:c.741-155_741-136del	ENSP00000502664.1:n.741-155_741-136del
ENST00000675078.1:c.741-155_741-136del	ENSP00000501549.1:n.741-155_741-136del
ENST00000675215.1:c.553-155_553-136del	ENSP00000502558.1:n.553-155_553-136del
ENST00000675233.1:n.2382_2401del
ENST00000675321.1:c.741-155_741-136del	ENSP00000502751.1:n.741-155_741-136del
ENST00000675325.1:n.2382_2401del
ENST00000675335.1:c.741-155_741-136del	ENSP00000502182.1:n.741-155_741-136del
ENST00000675400.1:n.2259_2278del
ENST00000675406.1:c.741-155_741-136del	ENSP00000501893.1:n.741-155_741-136del
ENST00000675458.1:c.834-155_834-136del	ENSP00000501754.1:n.834-155_834-136del
ENST00000675507.1:n.2382_2401del
ENST00000675535.1:c.741-155_741-136del	ENSP00000501667.1:n.741-155_741-136del
ENST00000675566.1:n.2382_2401del
ENST00000675602.1:n.2385_2404del
ENST00000675647.1:n.1046-155_1046-136del
ENST00000675711.1:c.741-155_741-136del	ENSP00000502485.1:n.741-155_741-136del
ENST00000675727.1:c.741-155_741-136del	ENSP00000501722.1:n.741-155_741-136del
ENST00000675748.1:n.2220_2239del
ENST00000675765.1:c.741-155_741-136del	ENSP00000502640.1:n.741-155_741-136del
ENST00000675825.1:c.741-155_741-136del	ENSP00000502632.1:n.741-155_741-136del
ENST00000675877.1:n.1046-155_1046-136del
ENST00000675893.1:c.*1655_*1674del	ENSP00000502001.1:n.*1655_*1674del
ENST00000675943.1:n.2382_2401del
ENST00000675979.1:c.650-155_650-136del	ENSP00000502208.1:n.650-155_650-136del
ENST00000676044.1:c.741-155_741-136del	ENSP00000502378.1:n.741-155_741-136del
ENST00000676086.1:n.2382_2401del
ENST00000676121.1:n.2414_2433del
ENST00000676237.1:c.650-163_650-144del	ENSP00000501828.1:n.650-163_650-144del
ENST00000676416.1:c.399-155_399-136del	ENSP00000501660.1:n.399-155_399-136del
ENST00000676424.1:n.2382_2401del
ENST00000676429.1:n.5055_5074del
ENST00000374647.9:c.741-155_741-136del	ENSP00000363779.5:n.741-155_741-136del
ENST00000537196.1:c.-307-155_-307-136del	ENSP00000439367.1:n.-307-155_-307-136del
NM_003640.3:c.741-155_741-136del , LRG_251t1:c.741-155_741-136del	NP_003631.2:n.741-155_741-136del
XM_005252285.2:c.399-155_399-136del	XP_005252342.1:n.399-155_399-136del
XM_011519136.1:c.741-155_741-136del	XP_011517438.1:n.741-155_741-136del
XM_011519137.1:c.399-155_399-136del	XP_011517439.1:n.399-155_399-136del
XR_929859.1:n.1057-155_1057-136del
NM_001318360.1:c.399-155_399-136del	NP_001305289.1:n.399-155_399-136del
NM_001330749.1:c.-307-155_-307-136del	NP_001317678.1:n.-307-155_-307-136del
NM_003640.4:c.741-155_741-136del	NP_003631.2:n.741-155_741-136del
XM_011519136.2:c.741-155_741-136del	XP_011517438.1:n.741-155_741-136del
XR_929859.3:n.1068-155_1068-136del
NM_003640.5:c.741-155_741-136del MANE Select	NP_003631.2:n.741-155_741-136del
NM_001318360.2:c.399-155_399-136del	NP_001305289.1:n.399-155_399-136del
NM_001330749.2:c.-307-155_-307-136del	NP_001317678.1:n.-307-155_-307-136del