Canonical Allele Identifier: CA647007033

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1286432605
• gnomAD v3: 2-43898884-ATTG-A
• gnomAD v4: 2-43898884-ATTG-A
• COSMIC: COSN22877453
• MyVariant Identifiers: chr2:g.44126024_44126026del (hg19) ; chr2:g.43898885_43898887del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43898890_43898892del , CM000664.2:g.43898890_43898892del	GRCh38
NC_000002.11:g.44126029_44126031del , CM000664.1:g.44126029_44126031del	GRCh37
NC_000002.10:g.43979533_43979535del	NCBI36
NG_008247.1:g.102119_102121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.256+332_256+334del
ENST00000472420.6:n.904+332_904+334del
ENST00000483489.2:n.256+332_256+334del
ENST00000681993.1:n.1377+332_1377+334del
ENST00000682303.1:c.*3611+332_*3611+334del	ENSP00000508325.1:n.*3611+332_*3611+334del
ENST00000682308.1:c.3825+332_3825+334del	ENSP00000507056.1:n.3825+332_3825+334del
ENST00000682434.1:n.1376+332_1376+334del
ENST00000682480.1:c.3843+332_3843+334del	ENSP00000508344.1:n.3843+332_3843+334del
ENST00000682546.1:c.3822+332_3822+334del	ENSP00000508188.1:n.3822+332_3822+334del
ENST00000682585.1:c.3825+332_3825+334del	ENSP00000506885.1:n.3825+332_3825+334del
ENST00000682595.1:n.4409+332_4409+334del
ENST00000682607.1:c.2243+332_2243+334del
ENST00000682612.1:c.677+332_677+334del
ENST00000682779.1:c.3816+332_3816+334del	ENSP00000507947.1:n.3816+332_3816+334del
ENST00000682885.1:c.3780+332_3780+334del	ENSP00000508036.1:n.3780+332_3780+334del
ENST00000682933.1:n.3899+332_3899+334del
ENST00000683002.1:c.677+332_677+334del
ENST00000683072.1:n.4409+332_4409+334del
ENST00000683080.1:n.1444+332_1444+334del
ENST00000683125.1:c.3933+332_3933+334del	ENSP00000507939.1:n.3933+332_3933+334del
ENST00000683213.1:c.3828+332_3828+334del	ENSP00000507751.1:n.3828+332_3828+334del
ENST00000683220.1:c.3855+332_3855+334del	ENSP00000507151.1:n.3855+332_3855+334del
ENST00000683329.1:n.4628+332_4628+334del
ENST00000683346.1:c.*3700+332_*3700+334del	ENSP00000507458.1:n.*3700+332_*3700+334del
ENST00000683409.1:n.2432+332_2432+334del
ENST00000683459.1:n.4412+332_4412+334del
ENST00000683590.1:c.3573+332_3573+334del	ENSP00000506820.1:n.3573+332_3573+334del
ENST00000683623.1:c.3732+332_3732+334del	ENSP00000507702.1:n.3732+332_3732+334del
ENST00000683645.1:n.4708_4710del
ENST00000683796.1:c.*3697+332_*3697+334del	ENSP00000508221.1:n.*3697+332_*3697+334del
ENST00000683833.1:c.3816+332_3816+334del	ENSP00000506852.1:n.3816+332_3816+334del
ENST00000683994.1:c.3825+332_3825+334del	ENSP00000507181.1:n.3825+332_3825+334del
ENST00000684290.1:c.*1361+332_*1361+334del	ENSP00000507243.1:n.*1361+332_*1361+334del
ENST00000684306.1:c.*3738+332_*3738+334del	ENSP00000508384.1:n.*3738+332_*3738+334del
ENST00000684341.1:n.3845+332_3845+334del
ENST00000684383.1:c.*3463+332_*3463+334del	ENSP00000506863.1:n.*3463+332_*3463+334del
ENST00000684418.1:n.5006+332_5006+334del
ENST00000684433.1:n.209+332_209+334del
ENST00000684454.1:n.3507_3509del
ENST00000684619.1:c.*3697+332_*3697+334del	ENSP00000508088.1:n.*3697+332_*3697+334del
ENST00000684743.1:n.6570+332_6570+334del
ENST00000260665.12:c.3825+332_3825+334del MANE Select	ENSP00000260665.7:n.3825+332_3825+334del
ENST00000260665.11:c.3825+332_3825+334del	ENSP00000260665.7:n.3825+332_3825+334del
ENST00000419884.5:c.66+332_66+334del	ENSP00000414207.1:n.66+332_66+334del
ENST00000463456.5:n.2868+332_2868+334del
ENST00000472420.5:n.222+332_222+334del
ENST00000483489.1:n.299+332_299+334del
NM_133259.3:c.3825+332_3825+334del	NP_573566.2:n.3825+332_3825+334del
XM_006711915.2:c.3747+332_3747+334del	XP_006711978.1:n.3747+332_3747+334del
XM_011532473.1:c.3825+332_3825+334del	XP_011530775.1:n.3825+332_3825+334del
XM_011532474.1:c.3825+332_3825+334del	XP_011530776.1:n.3825+332_3825+334del
XM_017003117.1:c.3747+332_3747+334del	XP_016858606.1:n.3747+332_3747+334del
XR_002958896.1:n.3867+332_3867+334del
NM_133259.4:c.3825+332_3825+334del MANE Select	NP_573566.2:n.3825+332_3825+334del