Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53822457_53822468del , CM000672.2:g.53822457_53822468del	GRCh38
NC_000010.10:g.55582217_55582228del , CM000672.1:g.55582217_55582228del	GRCh37
NC_000010.9:g.55252223_55252234del	NCBI36
NG_009191.2:g.983824_983835del
NG_009191.3:g.1811715_1811726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.4409+2668_4409+2679del	ENSP00000482794.1:n.4409+2668_4409+2679del
ENST00000320301.11:c.5258_5269del MANE Plus Clinical	ENSP00000322604.6:p.Ile1753_Ser1757delinsThr
ENST00000395445.6:c.4388+4925_4388+4936del	ENSP00000378832.2:n.4388+4925_4388+4936del
ENST00000613657.5:c.4409+2668_4409+2679del	ENSP00000482794.1:n.4409+2668_4409+2679del
ENST00000642496.1:c.3227-2238_3227-2227del
ENST00000644397.2:c.4368-2238_4368-2227del MANE Select	ENSP00000495195.1:n.4368-2238_4368-2227del
ENST00000320301.10:c.5258_5269del	ENSP00000322604.6:p.Ile1753_Ser1757delinsThr
ENST00000361849.7:c.5264_5275del	ENSP00000354950.3:p.Ile1755_Ser1759delinsThr
ENST00000373956.7:c.3213_3224del	ENSP00000363067.4:n.3213_3224del
ENST00000373957.7:c.5279_5290del	ENSP00000363068.4:p.Ile1760_Ser1764delinsThr
ENST00000373965.6:c.4373+2668_4373+2679del	ENSP00000363076.3:n.4373+2668_4373+2679del
ENST00000395430.5:c.5249_5260del	ENSP00000378818.1:p.Ile1750_Ser1754delinsThr
ENST00000395432.6:c.5138_5149del	ENSP00000378820.2:p.Ile1713_Ser1717delinsThr
ENST00000395433.5:c.5189_5200del	ENSP00000378821.1:p.Ile1730_Ser1734delinsThr
ENST00000395438.5:c.4371+4924_4371+4935del	ENSP00000378826.2:n.4371+4924_4371+4935del
ENST00000395440.5:c.1306-12922_1306-12911del	ENSP00000378827.1:n.1306-12922_1306-12911del
ENST00000395442.5:c.1099-12922_1099-12911del	ENSP00000378829.1:n.1099-12922_1099-12911del
ENST00000395445.5:c.4388+4925_4388+4936del	ENSP00000378832.2:n.4388+4925_4388+4936del
ENST00000395446.5:c.2092-12922_2092-12911del	ENSP00000378833.1:n.2092-12922_2092-12911del
ENST00000409834.5:c.3206+2668_3206+2679del	ENSP00000386693.1:n.3206+2668_3206+2679del
ENST00000414367.5:c.447+4925_447+4936del	ENSP00000412531.1:n.447+4925_447+4936del
ENST00000414778.5:c.4370+4925_4370+4936del	ENSP00000410304.2:n.4370+4925_4370+4936del
ENST00000437009.5:c.5051_5062del	ENSP00000412628.2:p.Ile1684_Ser1688delinsThr
ENST00000448885.5:c.3219_3230del	ENSP00000412320.1:n.3219_3230del
ENST00000463095.2:n.2277_2288del
ENST00000495484.5:c.462-4455_462-4444del	ENSP00000480780.1:n.462-4455_462-4444del
ENST00000612394.4:c.4406+4925_4406+4936del	ENSP00000482921.1:n.4406+4925_4406+4936del
ENST00000613657.4:c.4409+2668_4409+2679del	ENSP00000482794.1:n.4409+2668_4409+2679del
ENST00000614895.4:c.4385+4925_4385+4936del	ENSP00000478512.1:n.4385+4925_4385+4936del
ENST00000616114.4:c.4367+4925_4367+4936del	ENSP00000483745.1:n.4367+4925_4367+4936del
ENST00000617051.4:c.5285_5296del	ENSP00000484703.1:p.Ile1762_Ser1766delinsThr
ENST00000617271.4:c.4373+2668_4373+2679del	ENSP00000478076.1:n.4373+2668_4373+2679del
ENST00000618301.4:c.594-4455_594-4444del	ENSP00000482780.1:n.594-4455_594-4444del
ENST00000621708.4:c.4388+2668_4388+2679del	ENSP00000484454.1:n.4388+2668_4388+2679del
ENST00000622048.4:c.5057_5068del	ENSP00000482329.1:p.Ile1686_Ser1690delinsThr
NM_001142763.1:c.5279_5290del	NP_001136235.1:p.Ile1760_Ser1764delinsThr
NM_001142764.1:c.5264_5275del	NP_001136236.1:p.Ile1755_Ser1759delinsThr
NM_001142765.1:c.5051_5062del	NP_001136237.1:p.Ile1684_Ser1688delinsThr
NM_001142766.1:c.5249_5260del	NP_001136238.1:p.Ile1750_Ser1754delinsThr
NM_001142767.1:c.5138_5149del	NP_001136239.1:p.Ile1713_Ser1717delinsThr
NM_001142768.1:c.5198_5209del	NP_001136240.1:p.Ile1733_Ser1737delinsThr
NM_001142769.1:c.4409+2668_4409+2679del	NP_001136241.1:n.4409+2668_4409+2679del
NM_001142770.1:c.4373+2668_4373+2679del	NP_001136242.1:n.4373+2668_4373+2679del
NM_001142771.1:c.4388+2668_4388+2679del	NP_001136243.1:n.4388+2668_4388+2679del
NM_001142772.1:c.4373+2668_4373+2679del	NP_001136244.1:n.4373+2668_4373+2679del
NM_001142773.1:c.5189_5200del	NP_001136245.1:p.Ile1730_Ser1734delinsThr
NM_033056.3:c.5258_5269del	NP_149045.3:p.Ile1753_Ser1757delinsThr
NM_001142769.2:c.4409+2668_4409+2679del	NP_001136241.1:n.4409+2668_4409+2679del
NM_001142770.2:c.4373+2668_4373+2679del	NP_001136242.1:n.4373+2668_4373+2679del
NM_001354404.1:c.5192_5203del	NP_001341333.1:p.Ile1731_Ser1735delinsThr
NM_001354411.1:c.4388+4925_4388+4936del	NP_001341340.1:n.4388+4925_4388+4936del
NM_001354420.1:c.4367+4925_4367+4936del	NP_001341349.1:n.4367+4925_4367+4936del
NM_001354429.1:c.4368-4455_4368-4444del	NP_001341358.1:n.4368-4455_4368-4444del
XM_017016573.2:c.4388+2668_4388+2679del	XP_016872062.1:n.4388+2668_4388+2679del
XR_001747192.2:n.6271_6282del
XR_001747193.2:n.6262_6273del
NM_001142763.2:c.5279_5290del	NP_001136235.1:p.Ile1760_Ser1764delinsThr
NM_001142764.2:c.5264_5275del	NP_001136236.1:p.Ile1755_Ser1759delinsThr
NM_001142765.2:c.5051_5062del	NP_001136237.1:p.Ile1684_Ser1688delinsThr
NM_001142766.2:c.5249_5260del	NP_001136238.1:p.Ile1750_Ser1754delinsThr
NM_001142768.2:c.5198_5209del	NP_001136240.1:p.Ile1733_Ser1737delinsThr
NM_001142769.3:c.4409+2668_4409+2679del	NP_001136241.1:n.4409+2668_4409+2679del
NM_001142770.3:c.4373+2668_4373+2679del	NP_001136242.1:n.4373+2668_4373+2679del
NM_001142771.2:c.4388+2668_4388+2679del	NP_001136243.1:n.4388+2668_4388+2679del
NM_001142772.2:c.4373+2668_4373+2679del	NP_001136244.1:n.4373+2668_4373+2679del
NM_001142773.2:c.5189_5200del	NP_001136245.1:p.Ile1730_Ser1734delinsThr
NM_001354411.2:c.4388+4925_4388+4936del	NP_001341340.1:n.4388+4925_4388+4936del
NM_001354420.2:c.4367+4925_4367+4936del	NP_001341349.1:n.4367+4925_4367+4936del
NM_001354429.2:c.4368-4455_4368-4444del	NP_001341358.1:n.4368-4455_4368-4444del
NM_033056.4:c.5258_5269del MANE Plus Clinical	NP_149045.3:p.Ile1753_Ser1757delinsThr
NM_001142767.2:c.5138_5149del	NP_001136239.1:p.Ile1713_Ser1717delinsThr
NM_001354404.2:c.5192_5203del	NP_001341333.1:p.Ile1731_Ser1735delinsThr
NM_001384140.1:c.4368-2238_4368-2227del MANE Select	NP_001371069.1:n.4368-2238_4368-2227del

Linked Data

Genomic Alleles

Transcript Alleles