Canonical Allele Identifier: CA532289772

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1355414515
• gnomAD v2: 2-44121687-AG-A
• gnomAD v3: 2-43894548-AG-A
• gnomAD v4: 2-43894548-AG-A
• MyVariant Identifiers: chr2:g.44121688del (hg19) ; chr2:g.43894549del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894549del , CM000664.2:g.43894549del	GRCh38
NC_000002.11:g.44121688del , CM000664.1:g.44121688del	GRCh37
NC_000002.10:g.43975192del	NCBI36
NG_008247.1:g.106457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.611del
ENST00000681993.1:n.1533del
ENST00000682154.1:n.1415del
ENST00000682303.1:c.*3692del	ENSP00000508325.1:n.*3692del
ENST00000682308.1:c.3906del	ENSP00000507056.1:p.Tyr1303MetfsTer17
ENST00000682434.1:n.3536del
ENST00000682480.1:c.3999del	ENSP00000508344.1:p.Tyr1334MetfsTer17
ENST00000682546.1:c.3978del	ENSP00000508188.1:p.Tyr1327MetfsTer17
ENST00000682585.1:c.*109del	ENSP00000506885.1:n.*109del
ENST00000682607.1:c.2724del
ENST00000682612.1:c.752+2085del
ENST00000682696.1:c.81del	ENSP00000508411.1:p.Tyr28MetfsTer?
ENST00000682779.1:c.3972del	ENSP00000507947.1:p.Tyr1325MetfsTer17
ENST00000682885.1:c.3936del	ENSP00000508036.1:p.Tyr1313MetfsTer17
ENST00000682933.1:n.4181del
ENST00000683002.1:c.833del
ENST00000683072.1:n.4565del
ENST00000683080.1:n.1600del
ENST00000683096.1:n.2422del
ENST00000683125.1:c.4089del	ENSP00000507939.1:p.Tyr1364MetfsTer17
ENST00000683213.1:c.3984del	ENSP00000507751.1:p.Tyr1329MetfsTer17
ENST00000683220.1:c.4011del	ENSP00000507151.1:p.Tyr1338MetfsTer17
ENST00000683329.1:n.4784del
ENST00000683346.1:c.*3856del	ENSP00000507458.1:n.*3856del
ENST00000683409.1:n.2513del
ENST00000683459.1:n.4568del
ENST00000683590.1:c.3654del	ENSP00000506820.1:p.Tyr1219MetfsTer17
ENST00000683623.1:c.3888del	ENSP00000507702.1:p.Tyr1297MetfsTer17
ENST00000683796.1:c.*3778del	ENSP00000508221.1:n.*3778del
ENST00000683833.1:c.3897del	ENSP00000506852.1:p.Tyr1300MetfsTer17
ENST00000683994.1:c.*94del	ENSP00000507181.1:n.*94del
ENST00000684290.1:c.*1442del	ENSP00000507243.1:n.*1442del
ENST00000684306.1:c.*3894del	ENSP00000508384.1:n.*3894del
ENST00000684383.1:c.*3619del	ENSP00000506863.1:n.*3619del
ENST00000684418.1:n.5162del
ENST00000684433.1:n.365del
ENST00000684454.1:n.7845del
ENST00000684619.1:c.*3853del	ENSP00000508088.1:n.*3853del
ENST00000684743.1:n.6726del
ENST00000260665.12:c.3981del MANE Select	ENSP00000260665.7:p.Tyr1328MetfsTer17
ENST00000260665.11:c.3981del	ENSP00000260665.7:p.Tyr1328MetfsTer17
ENST00000419884.5:c.222del	ENSP00000414207.1:p.Tyr75MetfsTer8
ENST00000463456.5:n.3024del
NM_133259.3:c.3981del	NP_573566.2:p.Tyr1328MetfsTer17
XM_006711915.2:c.3903del	XP_006711978.1:p.Tyr1302MetfsTer17
XM_011532473.1:c.3906del	XP_011530775.1:p.Tyr1303MetfsTer17
XM_011532474.1:c.3981del	XP_011530776.1:p.Tyr1328MetfsTer8
XM_017003117.1:c.3828del	XP_016858606.1:p.Tyr1277MetfsTer17
XR_002958896.1:n.4023del
NM_133259.4:c.3981del MANE Select	NP_573566.2:p.Tyr1328MetfsTer17