Canonical Allele Identifier: CA1717345868

Gene: ELN

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74054718_74054719delinsGT , CM000669.2:g.74054718_74054719delinsGT	GRCh38
NC_000007.13:g.73469048_73469049delinsGT , CM000669.1:g.73469048_73469049delinsGT	GRCh37
NC_000007.12:g.73106984_73106985delinsGT	NCBI36
NG_009261.1:g.31622_31623delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1099_1100delinsGT	ENSP00000510104.1:p.Val367=
ENST00000252034.12:c.1099_1100delinsGT MANE Select	ENSP00000252034.7:p.Val367=
ENST00000252034.11:c.1099_1100delinsGT	ENSP00000252034.7:p.Val367=
ENST00000320399.10:c.1099_1100delinsGT	ENSP00000313565.6:p.Val367=
ENST00000320492.11:c.991_992delinsGT	ENSP00000315607.7:p.Val331=
ENST00000357036.9:c.1114_1115delinsGT	ENSP00000349540.5:p.Val372=
ENST00000358929.8:c.1099_1100delinsGT	ENSP00000351807.5:p.Val367=
ENST00000380553.8:c.748_749delinsGT	ENSP00000369926.4:p.Val250=
ENST00000380562.8:c.1099_1100delinsGT	ENSP00000369936.4:p.Val367=
ENST00000380575.8:c.1069_1070delinsGT	ENSP00000369949.4:p.Val357=
ENST00000380576.9:c.1099_1100delinsGT	ENSP00000369950.5:p.Val367=
ENST00000380584.8:c.1057_1058delinsGT	ENSP00000369958.4:p.Val353=
ENST00000414324.5:c.1084_1085delinsGT	ENSP00000392575.1:p.Val362=
ENST00000429192.5:c.1114_1115delinsGT	ENSP00000391129.1:p.Val372=
ENST00000445912.5:c.1099_1100delinsGT	ENSP00000389857.1:p.Val367=
ENST00000458204.5:c.1069_1070delinsGT	ENSP00000403162.1:p.Val357=
ENST00000466878.5:n.418_419delinsGT
ENST00000492210.1:n.462_463delinsGT
ENST00000621115.4:c.967_968delinsGT	ENSP00000480955.1:p.Val323=
NM_000501.3:c.1099_1100delinsGT	NP_000492.2:p.Val367=
NM_001081752.2:c.1069_1070delinsGT	NP_001075221.1:p.Val357=
NM_001081753.2:c.1114_1115delinsGT	NP_001075222.1:p.Val372=
NM_001081754.2:c.1114_1115delinsGT	NP_001075223.1:p.Val372=
NM_001081755.2:c.1099_1100delinsGT	NP_001075224.1:p.Val367=
NM_001278912.1:c.1099_1100delinsGT	NP_001265841.1:p.Val367=
NM_001278913.1:c.991_992delinsGT	NP_001265842.1:p.Val331=
NM_001278914.1:c.1084_1085delinsGT	NP_001265843.1:p.Val362=
NM_001278915.1:c.1099_1100delinsGT	NP_001265844.1:p.Val367=
NM_001278916.1:c.1057_1058delinsGT	NP_001265845.1:p.Val353=
NM_001278917.1:c.1069_1070delinsGT	NP_001265846.1:p.Val357=
NM_001278918.1:c.967_968delinsGT	NP_001265847.1:p.Val323=
NM_001278939.1:c.1099_1100delinsGT	NP_001265868.1:p.Val367=
XM_005250187.1:c.1063_1064delinsGT	XP_005250244.1:p.Val355=
XM_005250188.1:c.1057_1058delinsGT	XP_005250245.1:p.Val353=
XM_011515868.1:c.1114_1115delinsGT	XP_011514170.1:p.Val372=
XM_011515869.1:c.1084_1085delinsGT	XP_011514171.1:p.Val362=
XM_011515870.1:c.1078_1079delinsGT	XP_011514172.1:p.Val360=
XM_011515871.1:c.1072_1073delinsGT	XP_011514173.1:p.Val358=
XM_011515872.1:c.1111+1409_1111+1410delinsGT	XP_011514174.1:n.1111+1409_1111+1410delinsGT
XM_011515873.1:c.1114_1115delinsGT	XP_011514175.1:p.Val372=
XM_011515874.1:c.1048_1049delinsGT	XP_011514176.1:p.Val350=
XM_011515875.1:c.1033_1034delinsGT	XP_011514177.1:p.Val345=
XM_011515876.1:c.1114_1115delinsGT	XP_011514178.1:p.Val372=
XM_011515877.1:c.1111+1409_1111+1410delinsGT	XP_011514179.1:n.1111+1409_1111+1410delinsGT
XM_005250187.2:c.1063_1064delinsGT	XP_005250244.1:p.Val355=
XM_005250188.2:c.1057_1058delinsGT	XP_005250245.1:p.Val353=
XM_011515868.2:c.1114_1115delinsGT	XP_011514170.1:p.Val372=
XM_011515871.2:c.1072_1073delinsGT	XP_011514173.1:p.Val358=
XM_011515872.2:c.1111+1409_1111+1410delinsGT	XP_011514174.1:n.1111+1409_1111+1410delinsGT
XM_011515873.2:c.1114_1115delinsGT	XP_011514175.1:p.Val372=
XM_011515875.2:c.1033_1034delinsGT	XP_011514177.1:p.Val345=
XM_011515876.2:c.1114_1115delinsGT	XP_011514178.1:p.Val372=
XM_011515877.2:c.1111+1409_1111+1410delinsGT	XP_011514179.1:n.1111+1409_1111+1410delinsGT
XM_017011813.1:c.1027_1028delinsGT	XP_016867302.1:p.Val343=
XM_017011814.2:c.1072_1073delinsGT	XP_016867303.1:p.Val358=
NM_000501.4:c.1099_1100delinsGT MANE Select	NP_000492.2:p.Val367=
NM_001081752.3:c.1069_1070delinsGT	NP_001075221.1:p.Val357=
NM_001081753.3:c.1114_1115delinsGT	NP_001075222.1:p.Val372=
NM_001081754.3:c.1114_1115delinsGT	NP_001075223.1:p.Val372=
NM_001081755.3:c.1099_1100delinsGT	NP_001075224.1:p.Val367=
NM_001278912.2:c.1099_1100delinsGT	NP_001265841.1:p.Val367=
NM_001278913.2:c.991_992delinsGT	NP_001265842.1:p.Val331=
NM_001278914.2:c.1084_1085delinsGT	NP_001265843.1:p.Val362=
NM_001278915.2:c.1099_1100delinsGT	NP_001265844.1:p.Val367=
NM_001278916.2:c.1057_1058delinsGT	NP_001265845.1:p.Val353=
NM_001278917.2:c.1069_1070delinsGT	NP_001265846.1:p.Val357=
NM_001278918.2:c.967_968delinsGT	NP_001265847.1:p.Val323=
NM_001278939.2:c.1099_1100delinsGT	NP_001265868.1:p.Val367=