Canonical Allele Identifier: CA2749707485

Gene: LRPPRC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918037_43918038insTTTTTTTTTCAGG , CM000664.2:g.43918037_43918038insTTTTTTTTTCAGG	GRCh38
NC_000002.11:g.44145176_44145177insTTTTTTTTTCAGG , CM000664.1:g.44145176_44145177insTTTTTTTTTCAGG	GRCh37
NC_000002.10:g.43998680_43998681insTTTTTTTTTCAGG	NCBI36
NG_008247.1:g.82968_82969insCCTGAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.687_688insCCTGAAAAAAAAA
ENST00000682295.1:c.303+218_303+219insCCTGAAAAAAAAA	ENSP00000507499.1:n.303+218_303+219insCCTGAAAAAAAAA
ENST00000682303.1:c.*2921_*2922insCCTGAAAAAAAAA	ENSP00000508325.1:n.*2921_*2922insCCTGAAAAAAAAA
ENST00000682308.1:c.3135_3136insCCTGAAAAAAAAA	ENSP00000507056.1:p.Asn1046ProfsTer12
ENST00000682480.1:c.3153_3154insCCTGAAAAAAAAA	ENSP00000508344.1:p.Asn1052ProfsTer12
ENST00000682546.1:c.3132_3133insCCTGAAAAAAAAA	ENSP00000508188.1:p.Asn1045ProfsTer12
ENST00000682585.1:c.3135_3136insCCTGAAAAAAAAA	ENSP00000506885.1:p.Asn1046ProfsTer12
ENST00000682595.1:n.3719_3720insCCTGAAAAAAAAA
ENST00000682607.1:c.1553_1554insCCTGAAAAAAAAA
ENST00000682779.1:c.3126_3127insCCTGAAAAAAAAA	ENSP00000507947.1:p.Asn1043ProfsTer12
ENST00000682845.1:n.2237_2238insCCTGAAAAAAAAA
ENST00000682885.1:c.3090_3091insCCTGAAAAAAAAA	ENSP00000508036.1:p.Asn1031ProfsTer12
ENST00000682933.1:n.3209_3210insCCTGAAAAAAAAA
ENST00000683072.1:n.3719_3720insCCTGAAAAAAAAA
ENST00000683080.1:n.754_755insCCTGAAAAAAAAA
ENST00000683125.1:c.3243_3244insCCTGAAAAAAAAA	ENSP00000507939.1:p.Asn1082ProfsTer12
ENST00000683213.1:c.3138_3139insCCTGAAAAAAAAA	ENSP00000507751.1:p.Asn1047ProfsTer12
ENST00000683220.1:c.3165_3166insCCTGAAAAAAAAA	ENSP00000507151.1:p.Asn1056ProfsTer12
ENST00000683329.1:n.3938_3939insCCTGAAAAAAAAA
ENST00000683346.1:c.*3010_*3011insCCTGAAAAAAAAA	ENSP00000507458.1:n.*3010_*3011insCCTGAAAAAAAAA
ENST00000683409.1:n.1742_1743insCCTGAAAAAAAAA
ENST00000683459.1:n.3722_3723insCCTGAAAAAAAAA
ENST00000683590.1:c.2897-5480_2897-5479insCCTGAAAAAAAAA	ENSP00000506820.1:n.2897-5480_2897-5479insCCTGAAAAAAAAA
ENST00000683623.1:c.3042_3043insCCTGAAAAAAAAA	ENSP00000507702.1:p.Asn1015ProfsTer12
ENST00000683645.1:n.3686_3687insCCTGAAAAAAAAA
ENST00000683796.1:c.*3007_*3008insCCTGAAAAAAAAA	ENSP00000508221.1:n.*3007_*3008insCCTGAAAAAAAAA
ENST00000683802.1:n.6060_6061insCCTGAAAAAAAAA
ENST00000683833.1:c.3126_3127insCCTGAAAAAAAAA	ENSP00000506852.1:p.Asn1043ProfsTer12
ENST00000683994.1:c.3135_3136insCCTGAAAAAAAAA	ENSP00000507181.1:p.Asn1046ProfsTer12
ENST00000684290.1:c.*671_*672insCCTGAAAAAAAAA	ENSP00000507243.1:n.*671_*672insCCTGAAAAAAAAA
ENST00000684306.1:c.*3048_*3049insCCTGAAAAAAAAA	ENSP00000508384.1:n.*3048_*3049insCCTGAAAAAAAAA
ENST00000684341.1:n.3155_3156insCCTGAAAAAAAAA
ENST00000684383.1:c.*2773_*2774insCCTGAAAAAAAAA	ENSP00000506863.1:n.*2773_*2774insCCTGAAAAAAAAA
ENST00000684619.1:c.*3007_*3008insCCTGAAAAAAAAA	ENSP00000508088.1:n.*3007_*3008insCCTGAAAAAAAAA
ENST00000684705.1:n.256_257insCCTGAAAAAAAAA
ENST00000684743.1:n.4166_4167insCCTGAAAAAAAAA
ENST00000260665.12:c.3135_3136insCCTGAAAAAAAAA MANE Select	ENSP00000260665.7:p.Asn1046ProfsTer12
ENST00000260665.11:c.3135_3136insCCTGAAAAAAAAA	ENSP00000260665.7:p.Asn1046ProfsTer12
NM_133259.3:c.3135_3136insCCTGAAAAAAAAA	NP_573566.2:p.Asn1046ProfsTer12
XM_006711915.2:c.3057_3058insCCTGAAAAAAAAA	XP_006711978.1:p.Asn1020ProfsTer12
XM_006711916.2:c.3135_3136insCCTGAAAAAAAAA	XP_006711979.1:p.Asn1046ProfsTer16
XM_011532473.1:c.3135_3136insCCTGAAAAAAAAA	XP_011530775.1:p.Asn1046ProfsTer12
XM_011532474.1:c.3135_3136insCCTGAAAAAAAAA	XP_011530776.1:p.Asn1046ProfsTer12
XM_006711916.3:c.3135_3136insCCTGAAAAAAAAA	XP_006711979.1:p.Asn1046ProfsTer16
XM_017003117.1:c.3057_3058insCCTGAAAAAAAAA	XP_016858606.1:p.Asn1020ProfsTer12
XR_002958896.1:n.3177_3178insCCTGAAAAAAAAA
NM_133259.4:c.3135_3136insCCTGAAAAAAAAA MANE Select	NP_573566.2:p.Asn1046ProfsTer12