Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614374_57614382del , CM000673.2:g.57614374_57614382del	GRCh38
NC_000011.9:g.57381847_57381855del , CM000673.1:g.57381847_57381855del	GRCh37
NC_000011.8:g.57138423_57138431del	NCBI36
NG_009625.1:g.21821_21829del , LRG_105:g.21821_21829del

Transcript Alleles

HGVS	Amino-acid change
ENST00000278407.9:c.1296_1304del MANE Select	ENSP00000278407.4:p.Glu432_Pro434del
ENST00000528996.2:c.193_201del	ENSP00000431226.2:n.193_201del
ENST00000531605.2:c.1072_1080del	ENSP00000503752.1:n.1072_1080del
ENST00000619430.2:c.1092_1100del	ENSP00000478572.2:p.Glu364_Pro366del
ENST00000676670.1:c.1296_1304del	ENSP00000504807.1:p.Glu432_Pro434del
ENST00000676741.1:n.2378_2386del
ENST00000677624.1:c.716_724del	ENSP00000503979.1:n.716_724del
ENST00000677625.1:c.1242_1250del	ENSP00000502857.1:p.Glu414_Pro416del
ENST00000677856.1:n.1549_1557del
ENST00000677915.1:c.193_201del	ENSP00000503118.1:n.193_201del
ENST00000678533.1:c.850_858del	ENSP00000503873.1:n.850_858del
ENST00000678592.1:c.236_244del	ENSP00000504424.1:n.236_244del
ENST00000278407.8:c.1296_1304del	ENSP00000278407.4:p.Glu432_Pro434del
ENST00000340687.10:c.1185_1193del	ENSP00000341861.6:p.Glu395_Pro397del
ENST00000378323.8:c.1311_1319del	ENSP00000367574.4:p.Glu437_Pro439del
ENST00000378324.6:c.1140_1148del	ENSP00000367575.2:p.Glu380_Pro382del
ENST00000403558.1:c.1425_1433del	ENSP00000384420.1:p.Glu475_Pro477del
ENST00000528996.1:c.497_505del	ENSP00000431226.1:n.497_505del
ENST00000530113.1:n.753_761del
ENST00000531133.5:c.797_805del	ENSP00000435431.1:n.797_805del
ENST00000531797.5:c.321_329del	ENSP00000432554.1:n.321_329del
ENST00000619430.1:c.427_435del	ENSP00000478572.1:n.427_435del
NM_000062.2:c.1296_1304del , LRG_105t1:c.1296_1304del	NP_000053.2:p.Glu432_Pro434del
NM_001032295.1:c.1296_1304del	NP_001027466.1:p.Glu432_Pro434del
NM_000062.3:c.1296_1304del MANE Select	NP_000053.2:p.Glu432_Pro434del
NM_001032295.2:c.1296_1304del	NP_001027466.1:p.Glu432_Pro434del