Canonical Allele Identifier: CA1638171

Gene: LRPPRC

Linked Data

• dbSNP Id: rs745347082
• ExAC: 2:44145116 AAAG / A
• gnomAD v2: 2-44145116-AAAG-A
• gnomAD v3: 2-43917977-AAAG-A
• gnomAD v4: 2-43917977-AAAG-A
• MyVariant Identifiers: chr2:g.44145117_44145119del (hg19) ; chr2:g.43917978_43917980del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43917982_43917984del , CM000664.2:g.43917982_43917984del	GRCh38
NC_000002.11:g.44145121_44145123del , CM000664.1:g.44145121_44145123del	GRCh37
NC_000002.10:g.43998625_43998627del	NCBI36
NG_008247.1:g.83026_83028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.700+45_700+47del
ENST00000682295.1:c.303+276_303+278del	ENSP00000507499.1:n.303+276_303+278del
ENST00000682303.1:c.*2934+45_*2934+47del	ENSP00000508325.1:n.*2934+45_*2934+47del
ENST00000682308.1:c.3148+45_3148+47del	ENSP00000507056.1:n.3148+45_3148+47del
ENST00000682480.1:c.3166+45_3166+47del	ENSP00000508344.1:n.3166+45_3166+47del
ENST00000682546.1:c.3145+45_3145+47del	ENSP00000508188.1:n.3145+45_3145+47del
ENST00000682585.1:c.3148+45_3148+47del	ENSP00000506885.1:n.3148+45_3148+47del
ENST00000682595.1:n.3732+45_3732+47del
ENST00000682607.1:c.1566+45_1566+47del
ENST00000682779.1:c.3139+45_3139+47del	ENSP00000507947.1:n.3139+45_3139+47del
ENST00000682845.1:n.2250+45_2250+47del
ENST00000682885.1:c.3103+45_3103+47del	ENSP00000508036.1:n.3103+45_3103+47del
ENST00000682933.1:n.3222+45_3222+47del
ENST00000683072.1:n.3732+45_3732+47del
ENST00000683080.1:n.767+45_767+47del
ENST00000683125.1:c.3256+45_3256+47del	ENSP00000507939.1:n.3256+45_3256+47del
ENST00000683213.1:c.3151+45_3151+47del	ENSP00000507751.1:n.3151+45_3151+47del
ENST00000683220.1:c.3178+45_3178+47del	ENSP00000507151.1:n.3178+45_3178+47del
ENST00000683329.1:n.3951+45_3951+47del
ENST00000683346.1:c.*3023+45_*3023+47del	ENSP00000507458.1:n.*3023+45_*3023+47del
ENST00000683409.1:n.1755+45_1755+47del
ENST00000683459.1:n.3735+45_3735+47del
ENST00000683590.1:c.2897-5422_2897-5420del	ENSP00000506820.1:n.2897-5422_2897-5420del
ENST00000683623.1:c.3055+45_3055+47del	ENSP00000507702.1:n.3055+45_3055+47del
ENST00000683645.1:n.3699+45_3699+47del
ENST00000683796.1:c.*3020+45_*3020+47del	ENSP00000508221.1:n.*3020+45_*3020+47del
ENST00000683802.1:n.6073+45_6073+47del
ENST00000683833.1:c.3139+45_3139+47del	ENSP00000506852.1:n.3139+45_3139+47del
ENST00000683994.1:c.3148+45_3148+47del	ENSP00000507181.1:n.3148+45_3148+47del
ENST00000684290.1:c.*684+45_*684+47del	ENSP00000507243.1:n.*684+45_*684+47del
ENST00000684306.1:c.*3061+45_*3061+47del	ENSP00000508384.1:n.*3061+45_*3061+47del
ENST00000684341.1:n.3168+45_3168+47del
ENST00000684383.1:c.*2786+45_*2786+47del	ENSP00000506863.1:n.*2786+45_*2786+47del
ENST00000684619.1:c.*3020+45_*3020+47del	ENSP00000508088.1:n.*3020+45_*3020+47del
ENST00000684705.1:n.314_316del
ENST00000684743.1:n.4179+45_4179+47del
ENST00000260665.12:c.3148+45_3148+47del MANE Select	ENSP00000260665.7:n.3148+45_3148+47del
ENST00000260665.11:c.3148+45_3148+47del	ENSP00000260665.7:n.3148+45_3148+47del
NM_133259.3:c.3148+45_3148+47del	NP_573566.2:n.3148+45_3148+47del
XM_006711915.2:c.3070+45_3070+47del	XP_006711978.1:n.3070+45_3070+47del
XM_006711916.2:c.3147+46_3147+48del	XP_006711979.1:n.3147+46_3147+48del
XM_011532473.1:c.3148+45_3148+47del	XP_011530775.1:n.3148+45_3148+47del
XM_011532474.1:c.3148+45_3148+47del	XP_011530776.1:n.3148+45_3148+47del
XM_006711916.3:c.3147+46_3147+48del	XP_006711979.1:n.3147+46_3147+48del
XM_017003117.1:c.3070+45_3070+47del	XP_016858606.1:n.3070+45_3070+47del
XR_002958896.1:n.3190+45_3190+47del
NM_133259.4:c.3148+45_3148+47del MANE Select	NP_573566.2:n.3148+45_3148+47del