Canonical Allele Identifier: CA769099381

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1428592883
• gnomAD v3: 2-43898911-CAG-C
• gnomAD v4: 2-43898911-CAG-C
• MyVariant Identifiers: chr2:g.44126051_44126052del (hg19) ; chr2:g.43898912_43898913del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43898913_43898914del , CM000664.2:g.43898913_43898914del	GRCh38
NC_000002.11:g.44126052_44126053del , CM000664.1:g.44126052_44126053del	GRCh37
NC_000002.10:g.43979556_43979557del	NCBI36
NG_008247.1:g.102093_102094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.256+306_256+307del
ENST00000472420.6:n.904+306_904+307del
ENST00000483489.2:n.256+306_256+307del
ENST00000681993.1:n.1377+306_1377+307del
ENST00000682303.1:c.*3611+306_*3611+307del	ENSP00000508325.1:n.*3611+306_*3611+307del
ENST00000682308.1:c.3825+306_3825+307del	ENSP00000507056.1:n.3825+306_3825+307del
ENST00000682434.1:n.1376+306_1376+307del
ENST00000682480.1:c.3843+306_3843+307del	ENSP00000508344.1:n.3843+306_3843+307del
ENST00000682546.1:c.3822+306_3822+307del	ENSP00000508188.1:n.3822+306_3822+307del
ENST00000682585.1:c.3825+306_3825+307del	ENSP00000506885.1:n.3825+306_3825+307del
ENST00000682595.1:n.4409+306_4409+307del
ENST00000682607.1:c.2243+306_2243+307del
ENST00000682612.1:c.677+306_677+307del
ENST00000682779.1:c.3816+306_3816+307del	ENSP00000507947.1:n.3816+306_3816+307del
ENST00000682885.1:c.3780+306_3780+307del	ENSP00000508036.1:n.3780+306_3780+307del
ENST00000682933.1:n.3899+306_3899+307del
ENST00000683002.1:c.677+306_677+307del
ENST00000683072.1:n.4409+306_4409+307del
ENST00000683080.1:n.1444+306_1444+307del
ENST00000683125.1:c.3933+306_3933+307del	ENSP00000507939.1:n.3933+306_3933+307del
ENST00000683213.1:c.3828+306_3828+307del	ENSP00000507751.1:n.3828+306_3828+307del
ENST00000683220.1:c.3855+306_3855+307del	ENSP00000507151.1:n.3855+306_3855+307del
ENST00000683329.1:n.4628+306_4628+307del
ENST00000683346.1:c.*3700+306_*3700+307del	ENSP00000507458.1:n.*3700+306_*3700+307del
ENST00000683409.1:n.2432+306_2432+307del
ENST00000683459.1:n.4412+306_4412+307del
ENST00000683590.1:c.3573+306_3573+307del	ENSP00000506820.1:n.3573+306_3573+307del
ENST00000683623.1:c.3732+306_3732+307del	ENSP00000507702.1:n.3732+306_3732+307del
ENST00000683645.1:n.4682_4683del
ENST00000683796.1:c.*3697+306_*3697+307del	ENSP00000508221.1:n.*3697+306_*3697+307del
ENST00000683833.1:c.3816+306_3816+307del	ENSP00000506852.1:n.3816+306_3816+307del
ENST00000683994.1:c.3825+306_3825+307del	ENSP00000507181.1:n.3825+306_3825+307del
ENST00000684290.1:c.*1361+306_*1361+307del	ENSP00000507243.1:n.*1361+306_*1361+307del
ENST00000684306.1:c.*3738+306_*3738+307del	ENSP00000508384.1:n.*3738+306_*3738+307del
ENST00000684341.1:n.3845+306_3845+307del
ENST00000684383.1:c.*3463+306_*3463+307del	ENSP00000506863.1:n.*3463+306_*3463+307del
ENST00000684418.1:n.5006+306_5006+307del
ENST00000684433.1:n.209+306_209+307del
ENST00000684454.1:n.3481_3482del
ENST00000684619.1:c.*3697+306_*3697+307del	ENSP00000508088.1:n.*3697+306_*3697+307del
ENST00000684743.1:n.6570+306_6570+307del
ENST00000260665.12:c.3825+306_3825+307del MANE Select	ENSP00000260665.7:n.3825+306_3825+307del
ENST00000260665.11:c.3825+306_3825+307del	ENSP00000260665.7:n.3825+306_3825+307del
ENST00000419884.5:c.66+306_66+307del	ENSP00000414207.1:n.66+306_66+307del
ENST00000463456.5:n.2868+306_2868+307del
ENST00000472420.5:n.222+306_222+307del
ENST00000483489.1:n.299+306_299+307del
NM_133259.3:c.3825+306_3825+307del	NP_573566.2:n.3825+306_3825+307del
XM_006711915.2:c.3747+306_3747+307del	XP_006711978.1:n.3747+306_3747+307del
XM_011532473.1:c.3825+306_3825+307del	XP_011530775.1:n.3825+306_3825+307del
XM_011532474.1:c.3825+306_3825+307del	XP_011530776.1:n.3825+306_3825+307del
XM_017003117.1:c.3747+306_3747+307del	XP_016858606.1:n.3747+306_3747+307del
XR_002958896.1:n.3867+306_3867+307del
NM_133259.4:c.3825+306_3825+307del MANE Select	NP_573566.2:n.3825+306_3825+307del