Canonical Allele Identifier: CA2493981244
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1671045880

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905725_43905727del , CM000664.2:g.43905725_43905727del GRCh38
NC_000002.11:g.44132864_44132866del , CM000664.1:g.44132864_44132866del GRCh37
NC_000002.10:g.43986368_43986370del NCBI36
NG_008247.1:g.95283_95285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.412_414del
ENST00000681993.1:n.885_887del
ENST00000682295.1:c.488_490del ENSP00000507499.1:n.488_490del
ENST00000682303.1:c.*3119_*3121del ENSP00000508325.1:n.*3119_*3121del
ENST00000682308.1:c.3333_3335del ENSP00000507056.1:p.Ile1112del
ENST00000682480.1:c.3351_3353del ENSP00000508344.1:p.Ile1118del
ENST00000682546.1:c.3330_3332del ENSP00000508188.1:p.Ile1111del
ENST00000682585.1:c.3333_3335del ENSP00000506885.1:p.Ile1112del
ENST00000682595.1:n.3917_3919del
ENST00000682607.1:c.1751_1753del
ENST00000682612.1:c.185_187del
ENST00000682779.1:c.3324_3326del ENSP00000507947.1:p.Ile1109del
ENST00000682845.1:n.2435_2437del
ENST00000682885.1:c.3288_3290del ENSP00000508036.1:p.Ile1097del
ENST00000682933.1:n.3407_3409del
ENST00000683002.1:c.185_187del
ENST00000683072.1:n.3917_3919del
ENST00000683080.1:n.952_954del
ENST00000683125.1:c.3441_3443del ENSP00000507939.1:p.Ile1148del
ENST00000683213.1:c.3336_3338del ENSP00000507751.1:p.Ile1113del
ENST00000683220.1:c.3363_3365del ENSP00000507151.1:p.Ile1122del
ENST00000683329.1:n.4136_4138del
ENST00000683346.1:c.*3208_*3210del ENSP00000507458.1:n.*3208_*3210del
ENST00000683409.1:n.1940_1942del
ENST00000683459.1:n.3920_3922del
ENST00000683528.1:c.185_187del
ENST00000683590.1:c.3081_3083del ENSP00000506820.1:p.Ile1028del
ENST00000683623.1:c.3240_3242del ENSP00000507702.1:p.Ile1081del
ENST00000683645.1:n.3884_3886del
ENST00000683796.1:c.*3205_*3207del ENSP00000508221.1:n.*3205_*3207del
ENST00000683802.1:n.6258_6260del
ENST00000683833.1:c.3324_3326del ENSP00000506852.1:p.Ile1109del
ENST00000683994.1:c.3333_3335del ENSP00000507181.1:p.Ile1112del
ENST00000684290.1:c.*869_*871del ENSP00000507243.1:n.*869_*871del
ENST00000684306.1:c.*3246_*3248del ENSP00000508384.1:n.*3246_*3248del
ENST00000684341.1:n.3353_3355del
ENST00000684383.1:c.*2971_*2973del ENSP00000506863.1:n.*2971_*2973del
ENST00000684418.1:n.4514_4516del
ENST00000684454.1:n.2683_2685del
ENST00000684619.1:c.*3205_*3207del ENSP00000508088.1:n.*3205_*3207del
ENST00000684743.1:n.4364_4366del
ENST00000260665.12:c.3333_3335del MANE Select ENSP00000260665.7:p.Ile1112del
ENST00000260665.11:c.3333_3335del ENSP00000260665.7:p.Ile1112del
NM_133259.3:c.3333_3335del NP_573566.2:p.Ile1112del
XM_006711915.2:c.3255_3257del XP_006711978.1:p.Ile1086del
XM_011532473.1:c.3333_3335del XP_011530775.1:p.Ile1112del
XM_011532474.1:c.3333_3335del XP_011530776.1:p.Ile1112del
XM_017003117.1:c.3255_3257del XP_016858606.1:p.Ile1086del
XR_002958896.1:n.3375_3377del
NM_133259.4:c.3333_3335del MANE Select NP_573566.2:p.Ile1112del