Canonical Allele Identifier: CA46459969

Gene: LRPPRC

Linked Data

• dbSNP Id: rs891527624
• gnomAD v2: 2-44172361-CAA-C
• gnomAD v3: 2-43945222-CAA-C
• gnomAD v4: 2-43945222-CAA-C
• MyVariant Identifiers: chr2:g.44172362_44172363del (hg19) ; chr2:g.43945223_43945224del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945224_43945225del , CM000664.2:g.43945224_43945225del	GRCh38
NC_000002.11:g.44172363_44172364del , CM000664.1:g.44172363_44172364del	GRCh37
NC_000002.10:g.44025867_44025868del	NCBI36
NG_008247.1:g.55782_55783del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2296+108_2296+109del	ENSP00000386562.2:n.2296+108_2296+109del
ENST00000447246.2:c.2296+108_2296+109del	ENSP00000403637.2:n.2296+108_2296+109del
ENST00000681961.1:n.2316+108_2316+109del
ENST00000682104.1:c.2170+108_2170+109del	ENSP00000507716.1:n.2170+108_2170+109del
ENST00000682303.1:c.*2082+889_*2082+890del	ENSP00000508325.1:n.*2082+889_*2082+890del
ENST00000682308.1:c.2296+108_2296+109del	ENSP00000507056.1:n.2296+108_2296+109del
ENST00000682480.1:c.2296+108_2296+109del	ENSP00000508344.1:n.2296+108_2296+109del
ENST00000682546.1:c.2293+108_2293+109del	ENSP00000508188.1:n.2293+108_2293+109del
ENST00000682585.1:c.2296+108_2296+109del	ENSP00000506885.1:n.2296+108_2296+109del
ENST00000682595.1:n.2878+108_2878+109del
ENST00000682607.1:c.714+108_714+109del
ENST00000682779.1:c.2287+108_2287+109del	ENSP00000507947.1:n.2287+108_2287+109del
ENST00000682845.1:n.69_70del
ENST00000682885.1:c.2251+108_2251+109del	ENSP00000508036.1:n.2251+108_2251+109del
ENST00000682933.1:n.2370+108_2370+109del
ENST00000683072.1:n.2878+108_2878+109del
ENST00000683125.1:c.2296+108_2296+109del	ENSP00000507939.1:n.2296+108_2296+109del
ENST00000683213.1:c.2299+108_2299+109del	ENSP00000507751.1:n.2299+108_2299+109del
ENST00000683220.1:c.2326+108_2326+109del	ENSP00000507151.1:n.2326+108_2326+109del
ENST00000683329.1:n.3099+108_3099+109del
ENST00000683346.1:c.*2171+108_*2171+109del	ENSP00000507458.1:n.*2171+108_*2171+109del
ENST00000683459.1:n.2883+108_2883+109del
ENST00000683590.1:c.2296+108_2296+109del	ENSP00000506820.1:n.2296+108_2296+109del
ENST00000683623.1:c.2296+108_2296+109del	ENSP00000507702.1:n.2296+108_2296+109del
ENST00000683645.1:n.2847+108_2847+109del
ENST00000683694.1:n.1047+108_1047+109del
ENST00000683796.1:c.*2168+108_*2168+109del	ENSP00000508221.1:n.*2168+108_*2168+109del
ENST00000683802.1:n.5221+108_5221+109del
ENST00000683833.1:c.2287+108_2287+109del	ENSP00000506852.1:n.2287+108_2287+109del
ENST00000683989.1:c.2296+108_2296+109del	ENSP00000507510.1:n.2296+108_2296+109del
ENST00000683994.1:c.2296+108_2296+109del	ENSP00000507181.1:n.2296+108_2296+109del
ENST00000684290.1:c.2210+889_2210+890del	ENSP00000507243.1:n.2210+889_2210+890del
ENST00000684306.1:c.*2209+108_*2209+109del	ENSP00000508384.1:n.*2209+108_*2209+109del
ENST00000684341.1:n.2316+108_2316+109del
ENST00000684383.1:c.*1934+108_*1934+109del	ENSP00000506863.1:n.*1934+108_*1934+109del
ENST00000684619.1:c.*2168+108_*2168+109del	ENSP00000508088.1:n.*2168+108_*2168+109del
ENST00000684743.1:n.3327+108_3327+109del
ENST00000260665.12:c.2296+108_2296+109del MANE Select	ENSP00000260665.7:n.2296+108_2296+109del
ENST00000260665.11:c.2296+108_2296+109del	ENSP00000260665.7:n.2296+108_2296+109del
NM_133259.3:c.2296+108_2296+109del	NP_573566.2:n.2296+108_2296+109del
XM_006711915.2:c.2218+108_2218+109del	XP_006711978.1:n.2218+108_2218+109del
XM_006711916.2:c.2296+108_2296+109del	XP_006711979.1:n.2296+108_2296+109del
XM_011532473.1:c.2296+108_2296+109del	XP_011530775.1:n.2296+108_2296+109del
XM_011532474.1:c.2296+108_2296+109del	XP_011530776.1:n.2296+108_2296+109del
XM_006711916.3:c.2296+108_2296+109del	XP_006711979.1:n.2296+108_2296+109del
XM_017003117.1:c.2218+108_2218+109del	XP_016858606.1:n.2218+108_2218+109del
XR_002958896.1:n.2338+108_2338+109del
NM_133259.4:c.2296+108_2296+109del MANE Select	NP_573566.2:n.2296+108_2296+109del