Canonical Allele Identifier: CA1127939949

Gene: ELP1

Linked Data

• gnomAD v3: 9-108917458-ACTCCATCTC-A
• gnomAD v4: 9-108917458-ACTCCATCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108917459_108917467del , CM000671.2:g.108917459_108917467del	GRCh38
NC_000009.11:g.111679739_111679747del , CM000671.1:g.111679739_111679747del	GRCh37
NC_000009.10:g.110719560_110719568del	NCBI36
NG_008788.1:g.21862_21870del , LRG_251:g.21862_21870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.864+80_864+88del MANE Select	ENSP00000363779.5:n.864+80_864+88del
ENST00000495759.6:c.552+5375_552+5383del	ENSP00000433514.2:n.552+5375_552+5383del
ENST00000674535.1:c.864+80_864+88del	ENSP00000502142.1:n.864+80_864+88del
ENST00000674704.1:n.2671+80_2671+88del
ENST00000674836.1:n.1169+80_1169+88del
ENST00000674890.1:c.864+80_864+88del	ENSP00000501870.1:n.864+80_864+88del
ENST00000674938.1:c.522+80_522+88del	ENSP00000502427.1:n.522+80_522+88del
ENST00000674948.1:c.522+80_522+88del	ENSP00000501602.1:n.522+80_522+88del
ENST00000675052.1:c.864+80_864+88del	ENSP00000502664.1:n.864+80_864+88del
ENST00000675078.1:c.864+80_864+88del	ENSP00000501549.1:n.864+80_864+88del
ENST00000675215.1:c.*88+80_*88+88del	ENSP00000502558.1:n.*88+80_*88+88del
ENST00000675233.1:n.2660+80_2660+88del
ENST00000675321.1:c.864+80_864+88del	ENSP00000502751.1:n.864+80_864+88del
ENST00000675325.1:n.2660+80_2660+88del
ENST00000675335.1:c.864+80_864+88del	ENSP00000502182.1:n.864+80_864+88del
ENST00000675400.1:n.2537+80_2537+88del
ENST00000675406.1:c.864+80_864+88del	ENSP00000501893.1:n.864+80_864+88del
ENST00000675458.1:c.957+80_957+88del	ENSP00000501754.1:n.957+80_957+88del
ENST00000675507.1:n.2660+80_2660+88del
ENST00000675535.1:c.864+80_864+88del	ENSP00000501667.1:n.864+80_864+88del
ENST00000675566.1:n.2660+80_2660+88del
ENST00000675602.1:n.2743_2751del
ENST00000675647.1:n.1169+80_1169+88del
ENST00000675711.1:c.864+80_864+88del	ENSP00000502485.1:n.864+80_864+88del
ENST00000675727.1:c.864+80_864+88del	ENSP00000501722.1:n.864+80_864+88del
ENST00000675748.1:n.2498+80_2498+88del
ENST00000675765.1:c.864+80_864+88del	ENSP00000502640.1:n.864+80_864+88del
ENST00000675825.1:c.864+80_864+88del	ENSP00000502632.1:n.864+80_864+88del
ENST00000675877.1:n.1169+80_1169+88del
ENST00000675893.1:c.*1933+80_*1933+88del	ENSP00000502001.1:n.*1933+80_*1933+88del
ENST00000675943.1:n.2660+80_2660+88del
ENST00000675979.1:c.*107+80_*107+88del	ENSP00000502208.1:n.*107+80_*107+88del
ENST00000676044.1:c.864+80_864+88del	ENSP00000502378.1:n.864+80_864+88del
ENST00000676086.1:n.2660+80_2660+88del
ENST00000676121.1:n.2692+80_2692+88del
ENST00000676237.1:c.765+80_765+88del	ENSP00000501828.1:n.765+80_765+88del
ENST00000676416.1:c.522+80_522+88del	ENSP00000501660.1:n.522+80_522+88del
ENST00000676424.1:n.2660+80_2660+88del
ENST00000676429.1:n.5333+80_5333+88del
ENST00000374647.9:c.864+80_864+88del	ENSP00000363779.5:n.864+80_864+88del
ENST00000537196.1:c.-184+80_-184+88del	ENSP00000439367.1:n.-184+80_-184+88del
NM_003640.3:c.864+80_864+88del , LRG_251t1:c.864+80_864+88del	NP_003631.2:n.864+80_864+88del
XM_005252285.2:c.522+80_522+88del	XP_005252342.1:n.522+80_522+88del
XM_011519136.1:c.864+80_864+88del	XP_011517438.1:n.864+80_864+88del
XM_011519137.1:c.522+80_522+88del	XP_011517439.1:n.522+80_522+88del
XR_929859.1:n.1180+80_1180+88del
NM_001318360.1:c.522+80_522+88del	NP_001305289.1:n.522+80_522+88del
NM_001330749.1:c.-184+80_-184+88del	NP_001317678.1:n.-184+80_-184+88del
NM_003640.4:c.864+80_864+88del	NP_003631.2:n.864+80_864+88del
XM_011519136.2:c.864+80_864+88del	XP_011517438.1:n.864+80_864+88del
XR_929859.3:n.1191+80_1191+88del
NM_003640.5:c.864+80_864+88del MANE Select	NP_003631.2:n.864+80_864+88del
NM_001318360.2:c.522+80_522+88del	NP_001305289.1:n.522+80_522+88del
NM_001330749.2:c.-184+80_-184+88del	NP_001317678.1:n.-184+80_-184+88del