Canonical Allele Identifier: CA1029984981

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670788491
• gnomAD v3: 2-43898898-TTATC-T
• gnomAD v4: 2-43898898-TTATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43898904_43898907del , CM000664.2:g.43898904_43898907del	GRCh38
NC_000002.11:g.44126043_44126046del , CM000664.1:g.44126043_44126046del	GRCh37
NC_000002.10:g.43979547_43979550del	NCBI36
NG_008247.1:g.102104_102107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.256+317_256+320del
ENST00000472420.6:n.904+317_904+320del
ENST00000483489.2:n.256+317_256+320del
ENST00000681993.1:n.1377+317_1377+320del
ENST00000682303.1:c.*3611+317_*3611+320del	ENSP00000508325.1:n.*3611+317_*3611+320del
ENST00000682308.1:c.3825+317_3825+320del	ENSP00000507056.1:n.3825+317_3825+320del
ENST00000682434.1:n.1376+317_1376+320del
ENST00000682480.1:c.3843+317_3843+320del	ENSP00000508344.1:n.3843+317_3843+320del
ENST00000682546.1:c.3822+317_3822+320del	ENSP00000508188.1:n.3822+317_3822+320del
ENST00000682585.1:c.3825+317_3825+320del	ENSP00000506885.1:n.3825+317_3825+320del
ENST00000682595.1:n.4409+317_4409+320del
ENST00000682607.1:c.2243+317_2243+320del
ENST00000682612.1:c.677+317_677+320del
ENST00000682779.1:c.3816+317_3816+320del	ENSP00000507947.1:n.3816+317_3816+320del
ENST00000682885.1:c.3780+317_3780+320del	ENSP00000508036.1:n.3780+317_3780+320del
ENST00000682933.1:n.3899+317_3899+320del
ENST00000683002.1:c.677+317_677+320del
ENST00000683072.1:n.4409+317_4409+320del
ENST00000683080.1:n.1444+317_1444+320del
ENST00000683125.1:c.3933+317_3933+320del	ENSP00000507939.1:n.3933+317_3933+320del
ENST00000683213.1:c.3828+317_3828+320del	ENSP00000507751.1:n.3828+317_3828+320del
ENST00000683220.1:c.3855+317_3855+320del	ENSP00000507151.1:n.3855+317_3855+320del
ENST00000683329.1:n.4628+317_4628+320del
ENST00000683346.1:c.*3700+317_*3700+320del	ENSP00000507458.1:n.*3700+317_*3700+320del
ENST00000683409.1:n.2432+317_2432+320del
ENST00000683459.1:n.4412+317_4412+320del
ENST00000683590.1:c.3573+317_3573+320del	ENSP00000506820.1:n.3573+317_3573+320del
ENST00000683623.1:c.3732+317_3732+320del	ENSP00000507702.1:n.3732+317_3732+320del
ENST00000683645.1:n.4693_4696del
ENST00000683796.1:c.*3697+317_*3697+320del	ENSP00000508221.1:n.*3697+317_*3697+320del
ENST00000683833.1:c.3816+317_3816+320del	ENSP00000506852.1:n.3816+317_3816+320del
ENST00000683994.1:c.3825+317_3825+320del	ENSP00000507181.1:n.3825+317_3825+320del
ENST00000684290.1:c.*1361+317_*1361+320del	ENSP00000507243.1:n.*1361+317_*1361+320del
ENST00000684306.1:c.*3738+317_*3738+320del	ENSP00000508384.1:n.*3738+317_*3738+320del
ENST00000684341.1:n.3845+317_3845+320del
ENST00000684383.1:c.*3463+317_*3463+320del	ENSP00000506863.1:n.*3463+317_*3463+320del
ENST00000684418.1:n.5006+317_5006+320del
ENST00000684433.1:n.209+317_209+320del
ENST00000684454.1:n.3492_3495del
ENST00000684619.1:c.*3697+317_*3697+320del	ENSP00000508088.1:n.*3697+317_*3697+320del
ENST00000684743.1:n.6570+317_6570+320del
ENST00000260665.12:c.3825+317_3825+320del MANE Select	ENSP00000260665.7:n.3825+317_3825+320del
ENST00000260665.11:c.3825+317_3825+320del	ENSP00000260665.7:n.3825+317_3825+320del
ENST00000419884.5:c.66+317_66+320del	ENSP00000414207.1:n.66+317_66+320del
ENST00000463456.5:n.2868+317_2868+320del
ENST00000472420.5:n.222+317_222+320del
ENST00000483489.1:n.299+317_299+320del
NM_133259.3:c.3825+317_3825+320del	NP_573566.2:n.3825+317_3825+320del
XM_006711915.2:c.3747+317_3747+320del	XP_006711978.1:n.3747+317_3747+320del
XM_011532473.1:c.3825+317_3825+320del	XP_011530775.1:n.3825+317_3825+320del
XM_011532474.1:c.3825+317_3825+320del	XP_011530776.1:n.3825+317_3825+320del
XM_017003117.1:c.3747+317_3747+320del	XP_016858606.1:n.3747+317_3747+320del
XR_002958896.1:n.3867+317_3867+320del
NM_133259.4:c.3825+317_3825+320del MANE Select	NP_573566.2:n.3825+317_3825+320del