Canonical Allele Identifier: CA532288112

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1411869177
• gnomAD v2: 2-44184709-T-TTAAAAAA
• gnomAD v3: 2-43957570-T-TTAAAAAA
• gnomAD v4: 2-43957570-T-TTAAAAAA
• MyVariant Identifiers: chr2:g.44184709_44184710insTAAAAAA (hg19) ; chr2:g.43957570_43957571insTAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43957577_43957583dup , CM000664.2:g.43957577_43957583dup	GRCh38
NC_000002.11:g.44184716_44184722dup , CM000664.1:g.44184716_44184722dup	GRCh37
NC_000002.10:g.44038220_44038226dup	NCBI36
NG_008247.1:g.43429_43435dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1583-126_1583-120dup	ENSP00000386562.2:n.1583-126_1583-120dup
ENST00000447246.2:c.1583-126_1583-120dup	ENSP00000403637.2:n.1583-126_1583-120dup
ENST00000467058.2:n.312-126_312-120dup
ENST00000681959.1:n.1197-126_1197-120dup
ENST00000681961.1:n.1603-126_1603-120dup
ENST00000682104.1:c.1457-126_1457-120dup	ENSP00000507716.1:n.1457-126_1457-120dup
ENST00000682303.1:c.*1455-126_*1455-120dup	ENSP00000508325.1:n.*1455-126_*1455-120dup
ENST00000682308.1:c.1583-126_1583-120dup	ENSP00000507056.1:n.1583-126_1583-120dup
ENST00000682480.1:c.1583-126_1583-120dup	ENSP00000508344.1:n.1583-126_1583-120dup
ENST00000682546.1:c.1583-126_1583-120dup	ENSP00000508188.1:n.1583-126_1583-120dup
ENST00000682585.1:c.1583-126_1583-120dup	ENSP00000506885.1:n.1583-126_1583-120dup
ENST00000682595.1:n.2165-126_2165-120dup
ENST00000682779.1:c.1574-126_1574-120dup	ENSP00000507947.1:n.1574-126_1574-120dup
ENST00000682885.1:c.1583-126_1583-120dup	ENSP00000508036.1:n.1583-126_1583-120dup
ENST00000682933.1:n.1531_1537dup
ENST00000683072.1:n.2165-126_2165-120dup
ENST00000683082.1:n.1601-126_1601-120dup
ENST00000683125.1:c.1583-126_1583-120dup	ENSP00000507939.1:n.1583-126_1583-120dup
ENST00000683213.1:c.1586-126_1586-120dup	ENSP00000507751.1:n.1586-126_1586-120dup
ENST00000683220.1:c.1583-126_1583-120dup	ENSP00000507151.1:n.1583-126_1583-120dup
ENST00000683329.1:n.2386-126_2386-120dup
ENST00000683346.1:c.*1458-126_*1458-120dup	ENSP00000507458.1:n.*1458-126_*1458-120dup
ENST00000683459.1:n.2170-126_2170-120dup
ENST00000683590.1:c.1583-126_1583-120dup	ENSP00000506820.1:n.1583-126_1583-120dup
ENST00000683623.1:c.1583-126_1583-120dup	ENSP00000507702.1:n.1583-126_1583-120dup
ENST00000683645.1:n.1977_1983dup
ENST00000683694.1:n.334-126_334-120dup
ENST00000683796.1:c.*1455-126_*1455-120dup	ENSP00000508221.1:n.*1455-126_*1455-120dup
ENST00000683802.1:n.4382_4388dup
ENST00000683833.1:c.1574-126_1574-120dup	ENSP00000506852.1:n.1574-126_1574-120dup
ENST00000683934.1:c.1469-126_1469-120dup
ENST00000683989.1:c.1583-126_1583-120dup	ENSP00000507510.1:n.1583-126_1583-120dup
ENST00000683994.1:c.1583-126_1583-120dup	ENSP00000507181.1:n.1583-126_1583-120dup
ENST00000684290.1:c.1583-126_1583-120dup	ENSP00000507243.1:n.1583-126_1583-120dup
ENST00000684306.1:c.*1496-126_*1496-120dup	ENSP00000508384.1:n.*1496-126_*1496-120dup
ENST00000684341.1:n.1603-126_1603-120dup
ENST00000684383.1:c.*1221-126_*1221-120dup	ENSP00000506863.1:n.*1221-126_*1221-120dup
ENST00000684482.1:c.4052-126_4052-120dup
ENST00000684619.1:c.*1455-126_*1455-120dup	ENSP00000508088.1:n.*1455-126_*1455-120dup
ENST00000684743.1:n.2488_2494dup
ENST00000260665.12:c.1583-126_1583-120dup MANE Select	ENSP00000260665.7:n.1583-126_1583-120dup
ENST00000260665.11:c.1583-126_1583-120dup	ENSP00000260665.7:n.1583-126_1583-120dup
ENST00000467058.1:n.312-126_312-120dup
NM_133259.3:c.1583-126_1583-120dup	NP_573566.2:n.1583-126_1583-120dup
XM_006711915.2:c.1505-126_1505-120dup	XP_006711978.1:n.1505-126_1505-120dup
XM_006711916.2:c.1583-126_1583-120dup	XP_006711979.1:n.1583-126_1583-120dup
XM_011532473.1:c.1583-126_1583-120dup	XP_011530775.1:n.1583-126_1583-120dup
XM_011532474.1:c.1583-126_1583-120dup	XP_011530776.1:n.1583-126_1583-120dup
XM_006711916.3:c.1583-126_1583-120dup	XP_006711979.1:n.1583-126_1583-120dup
XM_017003117.1:c.1505-126_1505-120dup	XP_016858606.1:n.1505-126_1505-120dup
XR_002958896.1:n.1625-126_1625-120dup
NM_133259.4:c.1583-126_1583-120dup MANE Select	NP_573566.2:n.1583-126_1583-120dup