Canonical Allele Identifier: CA2658839543

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43943772-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943775_43943776del , CM000664.2:g.43943775_43943776del	GRCh38
NC_000002.11:g.44170914_44170915del , CM000664.1:g.44170914_44170915del	GRCh37
NC_000002.10:g.44024418_44024419del	NCBI36
NG_008247.1:g.57232_57233del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2417_2418del	ENSP00000386562.2:p.Lys806ThrfsTer4
ENST00000447246.2:c.2417_2418del	ENSP00000403637.2:p.Lys806ThrfsTer4
ENST00000681961.1:n.2437_2438del
ENST00000682104.1:c.2291_2292del	ENSP00000507716.1:p.Lys764ThrfsTer4
ENST00000682303.1:c.*2203_*2204del	ENSP00000508325.1:n.*2203_*2204del
ENST00000682308.1:c.2417_2418del	ENSP00000507056.1:p.Lys806ThrfsTer4
ENST00000682480.1:c.2417_2418del	ENSP00000508344.1:p.Lys806ThrfsTer4
ENST00000682546.1:c.2414_2415del	ENSP00000508188.1:p.Lys805ThrfsTer4
ENST00000682585.1:c.2417_2418del	ENSP00000506885.1:p.Lys806ThrfsTer4
ENST00000682595.1:n.2999_3000del
ENST00000682607.1:c.835_836del
ENST00000682779.1:c.2408_2409del	ENSP00000507947.1:p.Lys803ThrfsTer4
ENST00000682845.1:n.1519_1520del
ENST00000682885.1:c.2372_2373del	ENSP00000508036.1:p.Lys791ThrfsTer4
ENST00000682933.1:n.2491_2492del
ENST00000683072.1:n.2999_3000del
ENST00000683125.1:c.2417_2418del	ENSP00000507939.1:p.Lys806ThrfsTer4
ENST00000683213.1:c.2420_2421del	ENSP00000507751.1:p.Lys807ThrfsTer4
ENST00000683220.1:c.2447_2448del	ENSP00000507151.1:p.Lys816ThrfsTer4
ENST00000683329.1:n.3220_3221del
ENST00000683346.1:c.*2292_*2293del	ENSP00000507458.1:n.*2292_*2293del
ENST00000683459.1:n.3004_3005del
ENST00000683590.1:c.2417_2418del	ENSP00000506820.1:p.Lys806ThrfsTer4
ENST00000683623.1:c.2324_2325del	ENSP00000507702.1:p.Lys775ThrfsTer4
ENST00000683645.1:n.2968_2969del
ENST00000683694.1:n.1168_1169del
ENST00000683796.1:c.*2289_*2290del	ENSP00000508221.1:n.*2289_*2290del
ENST00000683802.1:n.5342_5343del
ENST00000683833.1:c.2408_2409del	ENSP00000506852.1:p.Lys803ThrfsTer4
ENST00000683989.1:c.2417_2418del	ENSP00000507510.1:p.Lys806ThrfsTer4
ENST00000683994.1:c.2417_2418del	ENSP00000507181.1:p.Lys806ThrfsTer4
ENST00000684290.1:c.*111_*112del	ENSP00000507243.1:n.*111_*112del
ENST00000684306.1:c.*2330_*2331del	ENSP00000508384.1:n.*2330_*2331del
ENST00000684341.1:n.2437_2438del
ENST00000684383.1:c.*2055_*2056del	ENSP00000506863.1:n.*2055_*2056del
ENST00000684397.1:c.121_122del
ENST00000684619.1:c.*2289_*2290del	ENSP00000508088.1:n.*2289_*2290del
ENST00000684743.1:n.3448_3449del
ENST00000260665.12:c.2417_2418del MANE Select	ENSP00000260665.7:p.Lys806ThrfsTer4
ENST00000260665.11:c.2417_2418del	ENSP00000260665.7:p.Lys806ThrfsTer4
NM_133259.3:c.2417_2418del	NP_573566.2:p.Lys806ThrfsTer4
XM_006711915.2:c.2339_2340del	XP_006711978.1:p.Lys780ThrfsTer4
XM_006711916.2:c.2417_2418del	XP_006711979.1:p.Lys806ThrfsTer4
XM_011532473.1:c.2417_2418del	XP_011530775.1:p.Lys806ThrfsTer4
XM_011532474.1:c.2417_2418del	XP_011530776.1:p.Lys806ThrfsTer4
XM_006711916.3:c.2417_2418del	XP_006711979.1:p.Lys806ThrfsTer4
XM_017003117.1:c.2339_2340del	XP_016858606.1:p.Lys780ThrfsTer4
XR_002958896.1:n.2459_2460del
NM_133259.4:c.2417_2418del MANE Select	NP_573566.2:p.Lys806ThrfsTer4