Canonical Allele Identifier: CA1029996223
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1671538458

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918012del , CM000664.2:g.43918012del GRCh38
NC_000002.11:g.44145151del , CM000664.1:g.44145151del GRCh37
NC_000002.10:g.43998655del NCBI36
NG_008247.1:g.82997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.700+16del
ENST00000682295.1:c.303+247del ENSP00000507499.1:n.303+247del
ENST00000682303.1:c.*2934+16del ENSP00000508325.1:n.*2934+16del
ENST00000682308.1:c.3148+16del ENSP00000507056.1:n.3148+16del
ENST00000682480.1:c.3166+16del ENSP00000508344.1:n.3166+16del
ENST00000682546.1:c.3145+16del ENSP00000508188.1:n.3145+16del
ENST00000682585.1:c.3148+16del ENSP00000506885.1:n.3148+16del
ENST00000682595.1:n.3732+16del
ENST00000682607.1:c.1566+16del
ENST00000682779.1:c.3139+16del ENSP00000507947.1:n.3139+16del
ENST00000682845.1:n.2250+16del
ENST00000682885.1:c.3103+16del ENSP00000508036.1:n.3103+16del
ENST00000682933.1:n.3222+16del
ENST00000683072.1:n.3732+16del
ENST00000683080.1:n.767+16del
ENST00000683125.1:c.3256+16del ENSP00000507939.1:n.3256+16del
ENST00000683213.1:c.3151+16del ENSP00000507751.1:n.3151+16del
ENST00000683220.1:c.3178+16del ENSP00000507151.1:n.3178+16del
ENST00000683329.1:n.3951+16del
ENST00000683346.1:c.*3023+16del ENSP00000507458.1:n.*3023+16del
ENST00000683409.1:n.1755+16del
ENST00000683459.1:n.3735+16del
ENST00000683590.1:c.2897-5451del ENSP00000506820.1:n.2897-5451del
ENST00000683623.1:c.3055+16del ENSP00000507702.1:n.3055+16del
ENST00000683645.1:n.3699+16del
ENST00000683796.1:c.*3020+16del ENSP00000508221.1:n.*3020+16del
ENST00000683802.1:n.6073+16del
ENST00000683833.1:c.3139+16del ENSP00000506852.1:n.3139+16del
ENST00000683994.1:c.3148+16del ENSP00000507181.1:n.3148+16del
ENST00000684290.1:c.*684+16del ENSP00000507243.1:n.*684+16del
ENST00000684306.1:c.*3061+16del ENSP00000508384.1:n.*3061+16del
ENST00000684341.1:n.3168+16del
ENST00000684383.1:c.*2786+16del ENSP00000506863.1:n.*2786+16del
ENST00000684619.1:c.*3020+16del ENSP00000508088.1:n.*3020+16del
ENST00000684705.1:n.285del
ENST00000684743.1:n.4179+16del
ENST00000260665.12:c.3148+16del MANE Select ENSP00000260665.7:n.3148+16del
ENST00000260665.11:c.3148+16del ENSP00000260665.7:n.3148+16del
NM_133259.3:c.3148+16del NP_573566.2:n.3148+16del
XM_006711915.2:c.3070+16del XP_006711978.1:n.3070+16del
XM_006711916.2:c.3147+17del XP_006711979.1:n.3147+17del
XM_011532473.1:c.3148+16del XP_011530775.1:n.3148+16del
XM_011532474.1:c.3148+16del XP_011530776.1:n.3148+16del
XM_006711916.3:c.3147+17del XP_006711979.1:n.3147+17del
XM_017003117.1:c.3070+16del XP_016858606.1:n.3070+16del
XR_002958896.1:n.3190+16del
NM_133259.4:c.3148+16del MANE Select NP_573566.2:n.3148+16del