Canonical Allele Identifier: CA2683272804

Gene: ELN

Linked Data

• gnomAD v4: 7-74063162-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063163del , CM000669.2:g.74063163del	GRCh38
NC_000007.13:g.73477493del , CM000669.1:g.73477493del	GRCh37
NC_000007.12:g.73115429del	NCBI36
NG_009261.1:g.40067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1983del	ENSP00000510104.1:p.Pro662LeufsTer13
ENST00000252034.12:c.1797del MANE Select	ENSP00000252034.7:p.Pro600LeufsTer13
ENST00000252034.11:c.1797del	ENSP00000252034.7:p.Pro600LeufsTer13
ENST00000320399.10:c.1896del	ENSP00000313565.6:p.Pro633LeufsTer13
ENST00000320492.11:c.1554del	ENSP00000315607.7:p.Pro519LeufsTer13
ENST00000357036.9:c.1812del	ENSP00000349540.5:p.Pro605LeufsTer13
ENST00000358929.8:c.1983del	ENSP00000351807.5:p.Pro662LeufsTer13
ENST00000380553.8:c.1389del	ENSP00000369926.4:p.Pro464LeufsTer13
ENST00000380562.8:c.1815del	ENSP00000369936.4:p.Pro606LeufsTer13
ENST00000380575.8:c.1710del	ENSP00000369949.4:p.Pro571LeufsTer13
ENST00000380576.9:c.1740del	ENSP00000369950.5:p.Pro581LeufsTer13
ENST00000380584.8:c.1653del	ENSP00000369958.4:p.Pro552LeufsTer13
ENST00000414324.5:c.1725del	ENSP00000392575.1:p.Pro576LeufsTer13
ENST00000429192.5:c.1755del	ENSP00000391129.1:p.Pro586LeufsTer13
ENST00000445912.5:c.1797del	ENSP00000389857.1:p.Pro600LeufsTer13
ENST00000458204.5:c.1767del	ENSP00000403162.1:p.Pro590LeufsTer13
ENST00000621115.4:c.1530del	ENSP00000480955.1:p.Pro511LeufsTer13
NM_000501.3:c.1797del	NP_000492.2:p.Pro600LeufsTer13
NM_001081752.2:c.1710del	NP_001075221.1:p.Pro571LeufsTer13
NM_001081753.2:c.1755del	NP_001075222.1:p.Pro586LeufsTer13
NM_001081754.2:c.1812del	NP_001075223.1:p.Pro605LeufsTer13
NM_001081755.2:c.1740del	NP_001075224.1:p.Pro581LeufsTer13
NM_001278912.1:c.1797del	NP_001265841.1:p.Pro600LeufsTer13
NM_001278913.1:c.1554del	NP_001265842.1:p.Pro519LeufsTer13
NM_001278914.1:c.1725del	NP_001265843.1:p.Pro576LeufsTer13
NM_001278915.1:c.1815del	NP_001265844.1:p.Pro606LeufsTer13
NM_001278916.1:c.1653del	NP_001265845.1:p.Pro552LeufsTer13
NM_001278917.1:c.1767del	NP_001265846.1:p.Pro590LeufsTer13
NM_001278918.1:c.1530del	NP_001265847.1:p.Pro511LeufsTer13
NM_001278939.1:c.1983del	NP_001265868.1:p.Pro662LeufsTer13
XM_005250187.1:c.1761del	XP_005250244.1:p.Pro588LeufsTer13
XM_005250188.1:c.1755del	XP_005250245.1:p.Pro586LeufsTer13
XM_011515868.1:c.1812del	XP_011514170.1:p.Pro605LeufsTer13
XM_011515869.1:c.1782del	XP_011514171.1:p.Pro595LeufsTer13
XM_011515870.1:c.1776del	XP_011514172.1:p.Pro593LeufsTer13
XM_011515871.1:c.1770del	XP_011514173.1:p.Pro591LeufsTer13
XM_011515872.1:c.1758del	XP_011514174.1:p.Pro587LeufsTer13
XM_011515873.1:c.1755del	XP_011514175.1:p.Pro586LeufsTer13
XM_011515874.1:c.1746del	XP_011514176.1:p.Pro583LeufsTer13
XM_011515875.1:c.1731del	XP_011514177.1:p.Pro578LeufsTer13
XM_011515876.1:c.1812del	XP_011514178.1:p.Pro605LeufsTer13
XM_011515877.1:c.1701del	XP_011514179.1:p.Pro568LeufsTer13
XM_005250187.2:c.1761del	XP_005250244.1:p.Pro588LeufsTer13
XM_005250188.2:c.1755del	XP_005250245.1:p.Pro586LeufsTer13
XM_011515868.2:c.1812del	XP_011514170.1:p.Pro605LeufsTer13
XM_011515871.2:c.1770del	XP_011514173.1:p.Pro591LeufsTer13
XM_011515872.2:c.1758del	XP_011514174.1:p.Pro587LeufsTer13
XM_011515873.2:c.1755del	XP_011514175.1:p.Pro586LeufsTer13
XM_011515875.2:c.1731del	XP_011514177.1:p.Pro578LeufsTer13
XM_011515876.2:c.1812del	XP_011514178.1:p.Pro605LeufsTer13
XM_011515877.2:c.1701del	XP_011514179.1:p.Pro568LeufsTer13
XM_017011813.1:c.1725del	XP_016867302.1:p.Pro576LeufsTer13
XM_017011814.2:c.1713del	XP_016867303.1:p.Pro572LeufsTer13
NM_000501.4:c.1797del MANE Select	NP_000492.2:p.Pro600LeufsTer13
NM_001081752.3:c.1710del	NP_001075221.1:p.Pro571LeufsTer13
NM_001081753.3:c.1755del	NP_001075222.1:p.Pro586LeufsTer13
NM_001081754.3:c.1812del	NP_001075223.1:p.Pro605LeufsTer13
NM_001081755.3:c.1740del	NP_001075224.1:p.Pro581LeufsTer13
NM_001278912.2:c.1797del	NP_001265841.1:p.Pro600LeufsTer13
NM_001278913.2:c.1554del	NP_001265842.1:p.Pro519LeufsTer13
NM_001278914.2:c.1725del	NP_001265843.1:p.Pro576LeufsTer13
NM_001278915.2:c.1815del	NP_001265844.1:p.Pro606LeufsTer13
NM_001278916.2:c.1653del	NP_001265845.1:p.Pro552LeufsTer13
NM_001278917.2:c.1767del	NP_001265846.1:p.Pro590LeufsTer13
NM_001278918.2:c.1530del	NP_001265847.1:p.Pro511LeufsTer13
NM_001278939.2:c.1983del	NP_001265868.1:p.Pro662LeufsTer13