Canonical Allele Identifier: CA1638694

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 554233
• ClinVar RCV Id: RCV000669822 ; RCV001205402
• dbSNP Id: rs752914914
• ExAC: 2:44175312 GTAGA / G
• gnomAD v2: 2-44175312-GTAGA-G
• gnomAD v4: 2-43948173-GTAGA-G
• MyVariant Identifiers: chr2:g.44175313_44175316del (hg19) ; chr2:g.43948174_43948177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948176_43948179del , CM000664.2:g.43948176_43948179del	GRCh38
NC_000002.11:g.44175315_44175318del , CM000664.1:g.44175315_44175318del	GRCh37
NC_000002.10:g.44028819_44028822del	NCBI36
NG_008247.1:g.52829_52832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1865_1868del	ENSP00000386562.2:p.Ile622ThrfsTer16
ENST00000447246.2:c.1865_1868del	ENSP00000403637.2:p.Ile622ThrfsTer16
ENST00000467058.2:n.594_597del
ENST00000681959.1:n.1479_1482del
ENST00000681961.1:n.1885_1888del
ENST00000682104.1:c.1739_1742del	ENSP00000507716.1:p.Ile580ThrfsTer16
ENST00000682303.1:c.*1737_*1740del	ENSP00000508325.1:n.*1737_*1740del
ENST00000682308.1:c.1865_1868del	ENSP00000507056.1:p.Ile622ThrfsTer16
ENST00000682480.1:c.1865_1868del	ENSP00000508344.1:p.Ile622ThrfsTer16
ENST00000682546.1:c.1862_1865del	ENSP00000508188.1:p.Ile621ThrfsTer16
ENST00000682585.1:c.1865_1868del	ENSP00000506885.1:p.Ile622ThrfsTer16
ENST00000682595.1:n.2447_2450del
ENST00000682607.1:c.283_286del
ENST00000682779.1:c.1856_1859del	ENSP00000507947.1:p.Ile619ThrfsTer16
ENST00000682885.1:c.1865_1868del	ENSP00000508036.1:p.Ile622ThrfsTer16
ENST00000682933.1:n.1939_1942del
ENST00000683072.1:n.2447_2450del
ENST00000683082.1:n.1883_1886del
ENST00000683125.1:c.1865_1868del	ENSP00000507939.1:p.Ile622ThrfsTer16
ENST00000683213.1:c.1868_1871del	ENSP00000507751.1:p.Ile623ThrfsTer16
ENST00000683220.1:c.1895_1898del	ENSP00000507151.1:p.Ile632ThrfsTer16
ENST00000683329.1:n.2668_2671del
ENST00000683346.1:c.*1740_*1743del	ENSP00000507458.1:n.*1740_*1743del
ENST00000683459.1:n.2452_2455del
ENST00000683590.1:c.1865_1868del	ENSP00000506820.1:p.Ile622ThrfsTer16
ENST00000683623.1:c.1865_1868del	ENSP00000507702.1:p.Ile622ThrfsTer16
ENST00000683645.1:n.2416_2419del
ENST00000683694.1:n.616_619del
ENST00000683796.1:c.*1737_*1740del	ENSP00000508221.1:n.*1737_*1740del
ENST00000683802.1:n.4790_4793del
ENST00000683833.1:c.1856_1859del	ENSP00000506852.1:p.Ile619ThrfsTer16
ENST00000683934.1:c.1751_1754del
ENST00000683989.1:c.1865_1868del	ENSP00000507510.1:p.Ile622ThrfsTer16
ENST00000683994.1:c.1865_1868del	ENSP00000507181.1:p.Ile622ThrfsTer16
ENST00000684290.1:c.1865_1868del	ENSP00000507243.1:p.Ile622ThrfsTer16
ENST00000684306.1:c.*1778_*1781del	ENSP00000508384.1:n.*1778_*1781del
ENST00000684341.1:n.1885_1888del
ENST00000684383.1:c.*1503_*1506del	ENSP00000506863.1:n.*1503_*1506del
ENST00000684482.1:c.4334_4337del
ENST00000684619.1:c.*1737_*1740del	ENSP00000508088.1:n.*1737_*1740del
ENST00000684743.1:n.2896_2899del
ENST00000260665.12:c.1865_1868del MANE Select	ENSP00000260665.7:p.Ile622ThrfsTer16
ENST00000260665.11:c.1865_1868del	ENSP00000260665.7:p.Ile622ThrfsTer16
NM_133259.3:c.1865_1868del	NP_573566.2:p.Ile622ThrfsTer16
XM_006711915.2:c.1787_1790del	XP_006711978.1:p.Ile596ThrfsTer16
XM_006711916.2:c.1865_1868del	XP_006711979.1:p.Ile622ThrfsTer16
XM_011532473.1:c.1865_1868del	XP_011530775.1:p.Ile622ThrfsTer16
XM_011532474.1:c.1865_1868del	XP_011530776.1:p.Ile622ThrfsTer16
XM_006711916.3:c.1865_1868del	XP_006711979.1:p.Ile622ThrfsTer16
XM_017003117.1:c.1787_1790del	XP_016858606.1:p.Ile596ThrfsTer16
XR_002958896.1:n.1907_1910del
NM_133259.4:c.1865_1868del MANE Select	NP_573566.2:p.Ile622ThrfsTer16