Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614471_57614472del , CM000673.2:g.57614471_57614472del	GRCh38
NC_000011.9:g.57381944_57381945del , CM000673.1:g.57381944_57381945del	GRCh37
NC_000011.8:g.57138520_57138521del	NCBI36
NG_009625.1:g.21918_21919del , LRG_105:g.21918_21919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1393_1394del MANE Select	ENSP00000278407.4:p.Ala465ProfsTer7
ENST00000528996.2:c.290_291del	ENSP00000431226.2:n.290_291del
ENST00000531605.2:c.1169_1170del	ENSP00000503752.1:n.1169_1170del
ENST00000619430.2:c.1189_1190del	ENSP00000478572.2:p.Ala397ProfsTer7
ENST00000676670.1:c.1393_1394del	ENSP00000504807.1:p.Ala465ProfsTer7
ENST00000676741.1:n.2475_2476del
ENST00000677624.1:c.813_814del	ENSP00000503979.1:n.813_814del
ENST00000677625.1:c.1339_1340del	ENSP00000502857.1:p.Ala447ProfsTer7
ENST00000677856.1:n.1646_1647del
ENST00000677915.1:c.290_291del	ENSP00000503118.1:n.290_291del
ENST00000678533.1:c.947_948del	ENSP00000503873.1:n.947_948del
ENST00000678592.1:c.333_334del	ENSP00000504424.1:n.333_334del
ENST00000278407.8:c.1393_1394del	ENSP00000278407.4:p.Ala465ProfsTer7
ENST00000340687.10:c.1282_1283del	ENSP00000341861.6:p.Ala428ProfsTer7
ENST00000378323.8:c.1408_1409del	ENSP00000367574.4:p.Ala470ProfsTer7
ENST00000378324.6:c.1237_1238del	ENSP00000367575.2:p.Ala413ProfsTer7
ENST00000403558.1:c.1522_1523del	ENSP00000384420.1:p.Ala508ProfsTer7
ENST00000528996.1:c.594_595del	ENSP00000431226.1:n.594_595del
ENST00000530113.1:n.850_851del
ENST00000531133.5:c.894_895del	ENSP00000435431.1:n.894_895del
ENST00000531797.5:c.418_419del	ENSP00000432554.1:n.418_419del
ENST00000619430.1:c.524_525del	ENSP00000478572.1:n.524_525del
NM_000062.2:c.1393_1394del , LRG_105t1:c.1393_1394del	NP_000053.2:p.Ala465ProfsTer7
NM_001032295.1:c.1393_1394del	NP_001027466.1:p.Ala465ProfsTer7
NM_000062.3:c.1393_1394del MANE Select	NP_000053.2:p.Ala465ProfsTer7
NM_001032295.2:c.1393_1394del	NP_001027466.1:p.Ala465ProfsTer7