Canonical Allele Identifier: CA2691117606

Gene: ELP1

Linked Data

• gnomAD v4: 9-108917727-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108917730_108917731del , CM000671.2:g.108917730_108917731del	GRCh38
NC_000009.11:g.111680010_111680011del , CM000671.1:g.111680010_111680011del	GRCh37
NC_000009.10:g.110719831_110719832del	NCBI36
NG_008788.1:g.21600_21601del , LRG_251:g.21600_21601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.741-59_741-58del MANE Select	ENSP00000363779.5:n.741-59_741-58del
ENST00000495759.6:c.552+5113_552+5114del	ENSP00000433514.2:n.552+5113_552+5114del
ENST00000674535.1:c.741-59_741-58del	ENSP00000502142.1:n.741-59_741-58del
ENST00000674704.1:n.2489_2490del
ENST00000674836.1:n.1046-59_1046-58del
ENST00000674890.1:c.741-59_741-58del	ENSP00000501870.1:n.741-59_741-58del
ENST00000674938.1:c.399-59_399-58del	ENSP00000502427.1:n.399-59_399-58del
ENST00000674948.1:c.399-59_399-58del	ENSP00000501602.1:n.399-59_399-58del
ENST00000675052.1:c.741-59_741-58del	ENSP00000502664.1:n.741-59_741-58del
ENST00000675078.1:c.741-59_741-58del	ENSP00000501549.1:n.741-59_741-58del
ENST00000675215.1:c.553-59_553-58del	ENSP00000502558.1:n.553-59_553-58del
ENST00000675233.1:n.2478_2479del
ENST00000675321.1:c.741-59_741-58del	ENSP00000502751.1:n.741-59_741-58del
ENST00000675325.1:n.2478_2479del
ENST00000675335.1:c.741-59_741-58del	ENSP00000502182.1:n.741-59_741-58del
ENST00000675400.1:n.2355_2356del
ENST00000675406.1:c.741-59_741-58del	ENSP00000501893.1:n.741-59_741-58del
ENST00000675458.1:c.834-59_834-58del	ENSP00000501754.1:n.834-59_834-58del
ENST00000675507.1:n.2478_2479del
ENST00000675535.1:c.741-59_741-58del	ENSP00000501667.1:n.741-59_741-58del
ENST00000675566.1:n.2478_2479del
ENST00000675602.1:n.2481_2482del
ENST00000675647.1:n.1046-59_1046-58del
ENST00000675711.1:c.741-59_741-58del	ENSP00000502485.1:n.741-59_741-58del
ENST00000675727.1:c.741-59_741-58del	ENSP00000501722.1:n.741-59_741-58del
ENST00000675748.1:n.2316_2317del
ENST00000675765.1:c.741-59_741-58del	ENSP00000502640.1:n.741-59_741-58del
ENST00000675825.1:c.741-59_741-58del	ENSP00000502632.1:n.741-59_741-58del
ENST00000675877.1:n.1046-59_1046-58del
ENST00000675893.1:c.*1751_*1752del	ENSP00000502001.1:n.*1751_*1752del
ENST00000675943.1:n.2478_2479del
ENST00000675979.1:c.650-59_650-58del	ENSP00000502208.1:n.650-59_650-58del
ENST00000676044.1:c.741-59_741-58del	ENSP00000502378.1:n.741-59_741-58del
ENST00000676086.1:n.2478_2479del
ENST00000676121.1:n.2510_2511del
ENST00000676237.1:c.650-67_650-66del	ENSP00000501828.1:n.650-67_650-66del
ENST00000676416.1:c.399-59_399-58del	ENSP00000501660.1:n.399-59_399-58del
ENST00000676424.1:n.2478_2479del
ENST00000676429.1:n.5151_5152del
ENST00000374647.9:c.741-59_741-58del	ENSP00000363779.5:n.741-59_741-58del
ENST00000537196.1:c.-307-59_-307-58del	ENSP00000439367.1:n.-307-59_-307-58del
NM_003640.3:c.741-59_741-58del , LRG_251t1:c.741-59_741-58del	NP_003631.2:n.741-59_741-58del
XM_005252285.2:c.399-59_399-58del	XP_005252342.1:n.399-59_399-58del
XM_011519136.1:c.741-59_741-58del	XP_011517438.1:n.741-59_741-58del
XM_011519137.1:c.399-59_399-58del	XP_011517439.1:n.399-59_399-58del
XR_929859.1:n.1057-59_1057-58del
NM_001318360.1:c.399-59_399-58del	NP_001305289.1:n.399-59_399-58del
NM_001330749.1:c.-307-59_-307-58del	NP_001317678.1:n.-307-59_-307-58del
NM_003640.4:c.741-59_741-58del	NP_003631.2:n.741-59_741-58del
XM_011519136.2:c.741-59_741-58del	XP_011517438.1:n.741-59_741-58del
XR_929859.3:n.1068-59_1068-58del
NM_003640.5:c.741-59_741-58del MANE Select	NP_003631.2:n.741-59_741-58del
NM_001318360.2:c.399-59_399-58del	NP_001305289.1:n.399-59_399-58del
NM_001330749.2:c.-307-59_-307-58del	NP_001317678.1:n.-307-59_-307-58del