Canonical Allele Identifier: CA2749707449
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43917934_43917935del , CM000664.2:g.43917934_43917935del GRCh38
NC_000002.11:g.44145073_44145074del , CM000664.1:g.44145073_44145074del GRCh37
NC_000002.10:g.43998577_43998578del NCBI36
NG_008247.1:g.83073_83074del

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.700+92_700+93del
ENST00000682295.1:c.303+323_303+324del ENSP00000507499.1:n.303+323_303+324del
ENST00000682303.1:c.*2934+92_*2934+93del ENSP00000508325.1:n.*2934+92_*2934+93del
ENST00000682308.1:c.3148+92_3148+93del ENSP00000507056.1:n.3148+92_3148+93del
ENST00000682480.1:c.3166+92_3166+93del ENSP00000508344.1:n.3166+92_3166+93del
ENST00000682546.1:c.3145+92_3145+93del ENSP00000508188.1:n.3145+92_3145+93del
ENST00000682585.1:c.3148+92_3148+93del ENSP00000506885.1:n.3148+92_3148+93del
ENST00000682595.1:n.3732+92_3732+93del
ENST00000682607.1:c.1566+92_1566+93del
ENST00000682779.1:c.3139+92_3139+93del ENSP00000507947.1:n.3139+92_3139+93del
ENST00000682845.1:n.2250+92_2250+93del
ENST00000682885.1:c.3103+92_3103+93del ENSP00000508036.1:n.3103+92_3103+93del
ENST00000682933.1:n.3222+92_3222+93del
ENST00000683072.1:n.3732+92_3732+93del
ENST00000683080.1:n.767+92_767+93del
ENST00000683125.1:c.3256+92_3256+93del ENSP00000507939.1:n.3256+92_3256+93del
ENST00000683213.1:c.3151+92_3151+93del ENSP00000507751.1:n.3151+92_3151+93del
ENST00000683220.1:c.3178+92_3178+93del ENSP00000507151.1:n.3178+92_3178+93del
ENST00000683329.1:n.3951+92_3951+93del
ENST00000683346.1:c.*3023+92_*3023+93del ENSP00000507458.1:n.*3023+92_*3023+93del
ENST00000683409.1:n.1755+92_1755+93del
ENST00000683459.1:n.3735+92_3735+93del
ENST00000683590.1:c.2897-5375_2897-5374del ENSP00000506820.1:n.2897-5375_2897-5374del
ENST00000683623.1:c.3055+92_3055+93del ENSP00000507702.1:n.3055+92_3055+93del
ENST00000683645.1:n.3699+92_3699+93del
ENST00000683796.1:c.*3020+92_*3020+93del ENSP00000508221.1:n.*3020+92_*3020+93del
ENST00000683802.1:n.6073+92_6073+93del
ENST00000683833.1:c.3139+92_3139+93del ENSP00000506852.1:n.3139+92_3139+93del
ENST00000683994.1:c.3148+92_3148+93del ENSP00000507181.1:n.3148+92_3148+93del
ENST00000684290.1:c.*684+92_*684+93del ENSP00000507243.1:n.*684+92_*684+93del
ENST00000684306.1:c.*3061+92_*3061+93del ENSP00000508384.1:n.*3061+92_*3061+93del
ENST00000684341.1:n.3168+92_3168+93del
ENST00000684383.1:c.*2786+92_*2786+93del ENSP00000506863.1:n.*2786+92_*2786+93del
ENST00000684619.1:c.*3020+92_*3020+93del ENSP00000508088.1:n.*3020+92_*3020+93del
ENST00000684705.1:n.361_362del
ENST00000684743.1:n.4179+92_4179+93del
ENST00000260665.12:c.3148+92_3148+93del MANE Select ENSP00000260665.7:n.3148+92_3148+93del
ENST00000260665.11:c.3148+92_3148+93del ENSP00000260665.7:n.3148+92_3148+93del
NM_133259.3:c.3148+92_3148+93del NP_573566.2:n.3148+92_3148+93del
XM_006711915.2:c.3070+92_3070+93del XP_006711978.1:n.3070+92_3070+93del
XM_006711916.2:c.3147+93_3147+94del XP_006711979.1:n.3147+93_3147+94del
XM_011532473.1:c.3148+92_3148+93del XP_011530775.1:n.3148+92_3148+93del
XM_011532474.1:c.3148+92_3148+93del XP_011530776.1:n.3148+92_3148+93del
XM_006711916.3:c.3147+93_3147+94del XP_006711979.1:n.3147+93_3147+94del
XM_017003117.1:c.3070+92_3070+93del XP_016858606.1:n.3070+92_3070+93del
XR_002958896.1:n.3190+92_3190+93del
NM_133259.4:c.3148+92_3148+93del MANE Select NP_573566.2:n.3148+92_3148+93del