Canonical Allele Identifier: CA2739266463

Gene: ELN

Linked Data

• ClinVar Variation Id: 2815116
• ClinVar RCV Id: RCV003631692

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74047691del , CM000669.2:g.74047691del	GRCh38
NC_000007.13:g.73462021del , CM000669.1:g.73462021del	GRCh37
NC_000007.12:g.73099957del	NCBI36
NG_009261.1:g.24595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.660del	ENSP00000510104.1:p.Tyr221ThrfsTer?
ENST00000252034.12:c.660del MANE Select	ENSP00000252034.7:p.Tyr221ThrfsTer?
ENST00000252034.11:c.660del	ENSP00000252034.7:p.Tyr221ThrfsTer?
ENST00000320399.10:c.660del	ENSP00000313565.6:p.Tyr221ThrfsTer?
ENST00000320492.11:c.578-451del	ENSP00000315607.7:n.578-451del
ENST00000357036.9:c.675del	ENSP00000349540.5:p.Tyr226ThrfsTer?
ENST00000358929.8:c.660del	ENSP00000351807.5:p.Tyr221ThrfsTer?
ENST00000380553.8:c.335-451del	ENSP00000369926.4:n.335-451del
ENST00000380562.8:c.660del	ENSP00000369936.4:p.Tyr221ThrfsTer?
ENST00000380575.8:c.630del	ENSP00000369949.4:p.Tyr211ThrfsTer?
ENST00000380576.9:c.660del	ENSP00000369950.5:p.Tyr221ThrfsTer?
ENST00000380584.8:c.644-451del	ENSP00000369958.4:n.644-451del
ENST00000414324.5:c.645del	ENSP00000392575.1:p.Tyr216ThrfsTer?
ENST00000417091.5:c.558del	ENSP00000411092.1:p.Tyr187ThrfsTer?
ENST00000428787.5:c.414del	ENSP00000399499.1:p.Tyr139ThrfsTer?
ENST00000429192.5:c.675del	ENSP00000391129.1:p.Tyr226ThrfsTer?
ENST00000438880.5:c.269-451del	ENSP00000389206.1:n.269-451del
ENST00000438906.5:c.594del	ENSP00000406949.1:p.Tyr199ThrfsTer?
ENST00000445912.5:c.660del	ENSP00000389857.1:p.Tyr221ThrfsTer?
ENST00000458204.5:c.630del	ENSP00000403162.1:p.Tyr211ThrfsTer?
ENST00000477397.1:n.544del
ENST00000493839.1:n.126del
ENST00000621115.4:c.528del	ENSP00000480955.1:p.Tyr177ThrfsTer?
NM_000501.3:c.660del	NP_000492.2:p.Tyr221ThrfsTer?
NM_001081752.2:c.630del	NP_001075221.1:p.Tyr211ThrfsTer?
NM_001081753.2:c.675del	NP_001075222.1:p.Tyr226ThrfsTer?
NM_001081754.2:c.675del	NP_001075223.1:p.Tyr226ThrfsTer?
NM_001081755.2:c.660del	NP_001075224.1:p.Tyr221ThrfsTer?
NM_001278912.1:c.660del	NP_001265841.1:p.Tyr221ThrfsTer?
NM_001278913.1:c.578-451del	NP_001265842.1:n.578-451del
NM_001278914.1:c.645del	NP_001265843.1:p.Tyr216ThrfsTer?
NM_001278915.1:c.660del	NP_001265844.1:p.Tyr221ThrfsTer?
NM_001278916.1:c.644-451del	NP_001265845.1:n.644-451del
NM_001278917.1:c.630del	NP_001265846.1:p.Tyr211ThrfsTer?
NM_001278918.1:c.528del	NP_001265847.1:p.Tyr177ThrfsTer?
NM_001278939.1:c.660del	NP_001265868.1:p.Tyr221ThrfsTer?
XM_005250187.1:c.624del	XP_005250244.1:p.Tyr209ThrfsTer?
XM_005250188.1:c.644-451del	XP_005250245.1:n.644-451del
XM_011515868.1:c.675del	XP_011514170.1:p.Tyr226ThrfsTer?
XM_011515869.1:c.645del	XP_011514171.1:p.Tyr216ThrfsTer?
XM_011515870.1:c.639del	XP_011514172.1:p.Tyr214ThrfsTer?
XM_011515871.1:c.659-451del	XP_011514173.1:n.659-451del
XM_011515872.1:c.675del	XP_011514174.1:p.Tyr226ThrfsTer?
XM_011515873.1:c.675del	XP_011514175.1:p.Tyr226ThrfsTer?
XM_011515874.1:c.609del	XP_011514176.1:p.Tyr204ThrfsTer?
XM_011515875.1:c.594del	XP_011514177.1:p.Tyr199ThrfsTer?
XM_011515876.1:c.675del	XP_011514178.1:p.Tyr226ThrfsTer?
XM_011515877.1:c.675del	XP_011514179.1:p.Tyr226ThrfsTer?
XM_005250187.2:c.624del	XP_005250244.1:p.Tyr209ThrfsTer?
XM_005250188.2:c.644-451del	XP_005250245.1:n.644-451del
XM_011515868.2:c.675del	XP_011514170.1:p.Tyr226ThrfsTer?
XM_011515871.2:c.659-451del	XP_011514173.1:n.659-451del
XM_011515872.2:c.675del	XP_011514174.1:p.Tyr226ThrfsTer?
XM_011515873.2:c.675del	XP_011514175.1:p.Tyr226ThrfsTer?
XM_011515875.2:c.594del	XP_011514177.1:p.Tyr199ThrfsTer?
XM_011515876.2:c.675del	XP_011514178.1:p.Tyr226ThrfsTer?
XM_011515877.2:c.675del	XP_011514179.1:p.Tyr226ThrfsTer?
XM_017011813.1:c.614-451del	XP_016867302.1:n.614-451del
XM_017011814.2:c.659-451del	XP_016867303.1:n.659-451del
NM_000501.4:c.660del MANE Select	NP_000492.2:p.Tyr221ThrfsTer?
NM_001081752.3:c.630del	NP_001075221.1:p.Tyr211ThrfsTer?
NM_001081753.3:c.675del	NP_001075222.1:p.Tyr226ThrfsTer?
NM_001081754.3:c.675del	NP_001075223.1:p.Tyr226ThrfsTer?
NM_001081755.3:c.660del	NP_001075224.1:p.Tyr221ThrfsTer?
NM_001278912.2:c.660del	NP_001265841.1:p.Tyr221ThrfsTer?
NM_001278913.2:c.578-451del	NP_001265842.1:n.578-451del
NM_001278914.2:c.645del	NP_001265843.1:p.Tyr216ThrfsTer?
NM_001278915.2:c.660del	NP_001265844.1:p.Tyr221ThrfsTer?
NM_001278916.2:c.644-451del	NP_001265845.1:n.644-451del
NM_001278917.2:c.630del	NP_001265846.1:p.Tyr211ThrfsTer?
NM_001278918.2:c.528del	NP_001265847.1:p.Tyr177ThrfsTer?
NM_001278939.2:c.660del	NP_001265868.1:p.Tyr221ThrfsTer?