Canonical Allele Identifier: CA1127940127

Gene: ELP1

Linked Data

• gnomAD v3: 9-108917673-T-TAAA
• gnomAD v4: 9-108917673-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108917674_108917676dup , CM000671.2:g.108917674_108917676dup	GRCh38
NC_000009.11:g.111679954_111679956dup , CM000671.1:g.111679954_111679956dup	GRCh37
NC_000009.10:g.110719775_110719777dup	NCBI36
NG_008788.1:g.21653_21655dup , LRG_251:g.21653_21655dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.741-6_741-4dup MANE Select	ENSP00000363779.5:n.741-6_741-4dup
ENST00000495759.6:c.552+5166_552+5168dup	ENSP00000433514.2:n.552+5166_552+5168dup
ENST00000674535.1:c.741-6_741-4dup	ENSP00000502142.1:n.741-6_741-4dup
ENST00000674704.1:n.2542_2544dup
ENST00000674836.1:n.1046-6_1046-4dup
ENST00000674890.1:c.741-6_741-4dup	ENSP00000501870.1:n.741-6_741-4dup
ENST00000674938.1:c.399-6_399-4dup	ENSP00000502427.1:n.399-6_399-4dup
ENST00000674948.1:c.399-6_399-4dup	ENSP00000501602.1:n.399-6_399-4dup
ENST00000675052.1:c.741-6_741-4dup	ENSP00000502664.1:n.741-6_741-4dup
ENST00000675078.1:c.741-6_741-4dup	ENSP00000501549.1:n.741-6_741-4dup
ENST00000675215.1:c.553-6_553-4dup	ENSP00000502558.1:n.553-6_553-4dup
ENST00000675233.1:n.2531_2533dup
ENST00000675321.1:c.741-6_741-4dup	ENSP00000502751.1:n.741-6_741-4dup
ENST00000675325.1:n.2531_2533dup
ENST00000675335.1:c.741-6_741-4dup	ENSP00000502182.1:n.741-6_741-4dup
ENST00000675400.1:n.2408_2410dup
ENST00000675406.1:c.741-6_741-4dup	ENSP00000501893.1:n.741-6_741-4dup
ENST00000675458.1:c.834-6_834-4dup	ENSP00000501754.1:n.834-6_834-4dup
ENST00000675507.1:n.2531_2533dup
ENST00000675535.1:c.741-6_741-4dup	ENSP00000501667.1:n.741-6_741-4dup
ENST00000675566.1:n.2531_2533dup
ENST00000675602.1:n.2534_2536dup
ENST00000675647.1:n.1046-6_1046-4dup
ENST00000675711.1:c.741-6_741-4dup	ENSP00000502485.1:n.741-6_741-4dup
ENST00000675727.1:c.741-6_741-4dup	ENSP00000501722.1:n.741-6_741-4dup
ENST00000675748.1:n.2369_2371dup
ENST00000675765.1:c.741-6_741-4dup	ENSP00000502640.1:n.741-6_741-4dup
ENST00000675825.1:c.741-6_741-4dup	ENSP00000502632.1:n.741-6_741-4dup
ENST00000675877.1:n.1046-6_1046-4dup
ENST00000675893.1:c.*1804_*1806dup	ENSP00000502001.1:n.*1804_*1806dup
ENST00000675943.1:n.2531_2533dup
ENST00000675979.1:c.650-6_650-4dup	ENSP00000502208.1:n.650-6_650-4dup
ENST00000676044.1:c.741-6_741-4dup	ENSP00000502378.1:n.741-6_741-4dup
ENST00000676086.1:n.2531_2533dup
ENST00000676121.1:n.2563_2565dup
ENST00000676237.1:c.650-14_650-12dup	ENSP00000501828.1:n.650-14_650-12dup
ENST00000676416.1:c.399-6_399-4dup	ENSP00000501660.1:n.399-6_399-4dup
ENST00000676424.1:n.2531_2533dup
ENST00000676429.1:n.5204_5206dup
ENST00000374647.9:c.741-6_741-4dup	ENSP00000363779.5:n.741-6_741-4dup
ENST00000537196.1:c.-307-6_-307-4dup	ENSP00000439367.1:n.-307-6_-307-4dup
NM_003640.3:c.741-6_741-4dup , LRG_251t1:c.741-6_741-4dup	NP_003631.2:n.741-6_741-4dup
XM_005252285.2:c.399-6_399-4dup	XP_005252342.1:n.399-6_399-4dup
XM_011519136.1:c.741-6_741-4dup	XP_011517438.1:n.741-6_741-4dup
XM_011519137.1:c.399-6_399-4dup	XP_011517439.1:n.399-6_399-4dup
XR_929859.1:n.1057-6_1057-4dup
NM_001318360.1:c.399-6_399-4dup	NP_001305289.1:n.399-6_399-4dup
NM_001330749.1:c.-307-6_-307-4dup	NP_001317678.1:n.-307-6_-307-4dup
NM_003640.4:c.741-6_741-4dup	NP_003631.2:n.741-6_741-4dup
XM_011519136.2:c.741-6_741-4dup	XP_011517438.1:n.741-6_741-4dup
XR_929859.3:n.1068-6_1068-4dup
NM_003640.5:c.741-6_741-4dup MANE Select	NP_003631.2:n.741-6_741-4dup
NM_001318360.2:c.399-6_399-4dup	NP_001305289.1:n.399-6_399-4dup
NM_001330749.2:c.-307-6_-307-4dup	NP_001317678.1:n.-307-6_-307-4dup