Canonical Allele Identifier: CA2658842954

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43948141-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948143del , CM000664.2:g.43948143del	GRCh38
NC_000002.11:g.44175282del , CM000664.1:g.44175282del	GRCh37
NC_000002.10:g.44028786del	NCBI36
NG_008247.1:g.52864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1900del	ENSP00000386562.2:p.His634MetfsTer5
ENST00000447246.2:c.1900del	ENSP00000403637.2:p.His634MetfsTer5
ENST00000681959.1:n.1514del
ENST00000681961.1:n.1920del
ENST00000682104.1:c.1774del	ENSP00000507716.1:p.His592MetfsTer5
ENST00000682303.1:c.*1772del	ENSP00000508325.1:n.*1772del
ENST00000682308.1:c.1900del	ENSP00000507056.1:p.His634MetfsTer5
ENST00000682480.1:c.1900del	ENSP00000508344.1:p.His634MetfsTer5
ENST00000682546.1:c.1897del	ENSP00000508188.1:p.His633MetfsTer5
ENST00000682585.1:c.1900del	ENSP00000506885.1:p.His634MetfsTer5
ENST00000682595.1:n.2482del
ENST00000682607.1:c.318del
ENST00000682779.1:c.1891del	ENSP00000507947.1:p.His631MetfsTer5
ENST00000682885.1:c.1900del	ENSP00000508036.1:p.His634MetfsTer5
ENST00000682933.1:n.1974del
ENST00000683072.1:n.2482del
ENST00000683082.1:n.1918del
ENST00000683125.1:c.1900del	ENSP00000507939.1:p.His634MetfsTer5
ENST00000683213.1:c.1903del	ENSP00000507751.1:p.His635MetfsTer5
ENST00000683220.1:c.1930del	ENSP00000507151.1:p.His644MetfsTer5
ENST00000683329.1:n.2703del
ENST00000683346.1:c.*1775del	ENSP00000507458.1:n.*1775del
ENST00000683459.1:n.2487del
ENST00000683590.1:c.1900del	ENSP00000506820.1:p.His634MetfsTer5
ENST00000683623.1:c.1900del	ENSP00000507702.1:p.His634MetfsTer5
ENST00000683645.1:n.2451del
ENST00000683694.1:n.651del
ENST00000683796.1:c.*1772del	ENSP00000508221.1:n.*1772del
ENST00000683802.1:n.4825del
ENST00000683833.1:c.1891del	ENSP00000506852.1:p.His631MetfsTer5
ENST00000683934.1:c.1786del
ENST00000683989.1:c.1900del	ENSP00000507510.1:p.His634MetfsTer5
ENST00000683994.1:c.1900del	ENSP00000507181.1:p.His634MetfsTer5
ENST00000684290.1:c.1900del	ENSP00000507243.1:p.His634MetfsTer5
ENST00000684306.1:c.*1813del	ENSP00000508384.1:n.*1813del
ENST00000684341.1:n.1920del
ENST00000684383.1:c.*1538del	ENSP00000506863.1:n.*1538del
ENST00000684482.1:c.4369del
ENST00000684619.1:c.*1772del	ENSP00000508088.1:n.*1772del
ENST00000684743.1:n.2931del
ENST00000260665.12:c.1900del MANE Select	ENSP00000260665.7:p.His634MetfsTer5
ENST00000260665.11:c.1900del	ENSP00000260665.7:p.His634MetfsTer5
NM_133259.3:c.1900del	NP_573566.2:p.His634MetfsTer5
XM_006711915.2:c.1822del	XP_006711978.1:p.His608MetfsTer5
XM_006711916.2:c.1900del	XP_006711979.1:p.His634MetfsTer5
XM_011532473.1:c.1900del	XP_011530775.1:p.His634MetfsTer5
XM_011532474.1:c.1900del	XP_011530776.1:p.His634MetfsTer5
XM_006711916.3:c.1900del	XP_006711979.1:p.His634MetfsTer5
XM_017003117.1:c.1822del	XP_016858606.1:p.His608MetfsTer5
XR_002958896.1:n.1942del
NM_133259.4:c.1900del MANE Select	NP_573566.2:p.His634MetfsTer5