Canonical Allele Identifier: CA2658834375

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899294-AATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899295_43899298del , CM000664.2:g.43899295_43899298del	GRCh38
NC_000002.11:g.44126434_44126437del , CM000664.1:g.44126434_44126437del	GRCh37
NC_000002.10:g.43979938_43979941del	NCBI36
NG_008247.1:g.101708_101711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.177_180del
ENST00000472420.6:n.825_828del
ENST00000483489.2:n.177_180del
ENST00000681993.1:n.1298_1301del
ENST00000682303.1:c.*3532_*3535del	ENSP00000508325.1:n.*3532_*3535del
ENST00000682308.1:c.3746_3749del	ENSP00000507056.1:p.Ala1249ValfsTer30
ENST00000682434.1:n.1297_1300del
ENST00000682480.1:c.3764_3767del	ENSP00000508344.1:p.Ala1255ValfsTer?
ENST00000682546.1:c.3743_3746del	ENSP00000508188.1:p.Ala1248ValfsTer?
ENST00000682585.1:c.3746_3749del	ENSP00000506885.1:p.Ala1249ValfsTer?
ENST00000682595.1:n.4330_4333del
ENST00000682607.1:c.2164_2167del
ENST00000682612.1:c.598_601del
ENST00000682779.1:c.3737_3740del	ENSP00000507947.1:p.Ala1246ValfsTer?
ENST00000682845.1:n.2848_2851del
ENST00000682885.1:c.3701_3704del	ENSP00000508036.1:p.Ala1234ValfsTer?
ENST00000682933.1:n.3820_3823del
ENST00000683002.1:c.598_601del
ENST00000683072.1:n.4330_4333del
ENST00000683080.1:n.1365_1368del
ENST00000683125.1:c.3854_3857del	ENSP00000507939.1:p.Ala1285ValfsTer?
ENST00000683213.1:c.3749_3752del	ENSP00000507751.1:p.Ala1250ValfsTer?
ENST00000683220.1:c.3776_3779del	ENSP00000507151.1:p.Ala1259ValfsTer?
ENST00000683329.1:n.4549_4552del
ENST00000683346.1:c.*3621_*3624del	ENSP00000507458.1:n.*3621_*3624del
ENST00000683409.1:n.2353_2356del
ENST00000683459.1:n.4333_4336del
ENST00000683528.1:c.674_677del
ENST00000683590.1:c.3494_3497del	ENSP00000506820.1:p.Ala1165ValfsTer30
ENST00000683623.1:c.3653_3656del	ENSP00000507702.1:p.Ala1218ValfsTer?
ENST00000683645.1:n.4297_4300del
ENST00000683796.1:c.*3618_*3621del	ENSP00000508221.1:n.*3618_*3621del
ENST00000683802.1:n.6671_6674del
ENST00000683833.1:c.3737_3740del	ENSP00000506852.1:p.Ala1246ValfsTer30
ENST00000683994.1:c.3746_3749del	ENSP00000507181.1:p.Ala1249ValfsTer?
ENST00000684290.1:c.*1282_*1285del	ENSP00000507243.1:n.*1282_*1285del
ENST00000684306.1:c.*3659_*3662del	ENSP00000508384.1:n.*3659_*3662del
ENST00000684341.1:n.3766_3769del
ENST00000684383.1:c.*3384_*3387del	ENSP00000506863.1:n.*3384_*3387del
ENST00000684418.1:n.4927_4930del
ENST00000684433.1:n.130_133del
ENST00000684454.1:n.3096_3099del
ENST00000684619.1:c.*3618_*3621del	ENSP00000508088.1:n.*3618_*3621del
ENST00000684743.1:n.6491_6494del
ENST00000260665.12:c.3746_3749del MANE Select	ENSP00000260665.7:p.Ala1249ValfsTer?
ENST00000260665.11:c.3746_3749del	ENSP00000260665.7:p.Ala1249ValfsTer?
ENST00000463456.5:n.2789_2792del
ENST00000472420.5:n.143_146del
ENST00000483489.1:n.220_223del
NM_133259.3:c.3746_3749del	NP_573566.2:p.Ala1249ValfsTer?
XM_006711915.2:c.3668_3671del	XP_006711978.1:p.Ala1223ValfsTer?
XM_011532473.1:c.3746_3749del	XP_011530775.1:p.Ala1249ValfsTer30
XM_011532474.1:c.3746_3749del	XP_011530776.1:p.Ala1249ValfsTer?
XM_017003117.1:c.3668_3671del	XP_016858606.1:p.Ala1223ValfsTer30
XR_002958896.1:n.3788_3791del
NM_133259.4:c.3746_3749del MANE Select	NP_573566.2:p.Ala1249ValfsTer?