Canonical Allele Identifier: CA1637961

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2053945
• ClinVar RCV Id: RCV002922901 ; RCV003465866
• dbSNP Id: rs764402730
• ExAC: 2:44126442 CTGAT / C
• gnomAD v2: 2-44126442-CTGAT-C
• gnomAD v4: 2-43899303-CTGAT-C
• MyVariant Identifiers: chr2:g.44126443_44126446del (hg19) ; chr2:g.43899304_43899307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899306_43899309del , CM000664.2:g.43899306_43899309del	GRCh38
NC_000002.11:g.44126445_44126448del , CM000664.1:g.44126445_44126448del	GRCh37
NC_000002.10:g.43979949_43979952del	NCBI36
NG_008247.1:g.101699_101702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.168_171del
ENST00000472420.6:n.816_819del
ENST00000483489.2:n.168_171del
ENST00000681993.1:n.1289_1292del
ENST00000682303.1:c.*3523_*3526del	ENSP00000508325.1:n.*3523_*3526del
ENST00000682308.1:c.3737_3740del	ENSP00000507056.1:p.Asn1246SerfsTer?
ENST00000682434.1:n.1288_1291del
ENST00000682480.1:c.3755_3758del	ENSP00000508344.1:p.Asn1252SerfsTer?
ENST00000682546.1:c.3734_3737del	ENSP00000508188.1:p.Asn1245SerfsTer?
ENST00000682585.1:c.3737_3740del	ENSP00000506885.1:p.Asn1246SerfsTer?
ENST00000682595.1:n.4321_4324del
ENST00000682607.1:c.2155_2158del
ENST00000682612.1:c.589_592del
ENST00000682779.1:c.3728_3731del	ENSP00000507947.1:p.Asn1243SerfsTer?
ENST00000682845.1:n.2839_2842del
ENST00000682885.1:c.3692_3695del	ENSP00000508036.1:p.Asn1231SerfsTer?
ENST00000682933.1:n.3811_3814del
ENST00000683002.1:c.589_592del
ENST00000683072.1:n.4321_4324del
ENST00000683080.1:n.1356_1359del
ENST00000683125.1:c.3845_3848del	ENSP00000507939.1:p.Asn1282SerfsTer?
ENST00000683213.1:c.3740_3743del	ENSP00000507751.1:p.Asn1247SerfsTer?
ENST00000683220.1:c.3767_3770del	ENSP00000507151.1:p.Asn1256SerfsTer?
ENST00000683329.1:n.4540_4543del
ENST00000683346.1:c.*3612_*3615del	ENSP00000507458.1:n.*3612_*3615del
ENST00000683409.1:n.2344_2347del
ENST00000683459.1:n.4324_4327del
ENST00000683528.1:c.665_668del
ENST00000683590.1:c.3485_3488del	ENSP00000506820.1:p.Asn1162SerfsTer?
ENST00000683623.1:c.3644_3647del	ENSP00000507702.1:p.Asn1215SerfsTer?
ENST00000683645.1:n.4288_4291del
ENST00000683796.1:c.*3609_*3612del	ENSP00000508221.1:n.*3609_*3612del
ENST00000683802.1:n.6662_6665del
ENST00000683833.1:c.3728_3731del	ENSP00000506852.1:p.Asn1243SerfsTer?
ENST00000683994.1:c.3737_3740del	ENSP00000507181.1:p.Asn1246SerfsTer?
ENST00000684290.1:c.*1273_*1276del	ENSP00000507243.1:n.*1273_*1276del
ENST00000684306.1:c.*3650_*3653del	ENSP00000508384.1:n.*3650_*3653del
ENST00000684341.1:n.3757_3760del
ENST00000684383.1:c.*3375_*3378del	ENSP00000506863.1:n.*3375_*3378del
ENST00000684418.1:n.4918_4921del
ENST00000684433.1:n.121_124del
ENST00000684454.1:n.3087_3090del
ENST00000684619.1:c.*3609_*3612del	ENSP00000508088.1:n.*3609_*3612del
ENST00000684743.1:n.6482_6485del
ENST00000260665.12:c.3737_3740del MANE Select	ENSP00000260665.7:p.Asn1246SerfsTer?
ENST00000260665.11:c.3737_3740del	ENSP00000260665.7:p.Asn1246SerfsTer?
ENST00000463456.5:n.2780_2783del
ENST00000472420.5:n.134_137del
ENST00000483489.1:n.211_214del
NM_133259.3:c.3737_3740del	NP_573566.2:p.Asn1246SerfsTer?
XM_006711915.2:c.3659_3662del	XP_006711978.1:p.Asn1220SerfsTer?
XM_011532473.1:c.3737_3740del	XP_011530775.1:p.Asn1246SerfsTer?
XM_011532474.1:c.3737_3740del	XP_011530776.1:p.Asn1246SerfsTer?
XM_017003117.1:c.3659_3662del	XP_016858606.1:p.Asn1220SerfsTer?
XR_002958896.1:n.3779_3782del
NM_133259.4:c.3737_3740del MANE Select	NP_573566.2:p.Asn1246SerfsTer?