Canonical Allele Identifier: CA2658836969

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43917984-A-ACCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43917986_43917987insCCCCCCC , CM000664.2:g.43917986_43917987insCCCCCCC	GRCh38
NC_000002.11:g.44145125_44145126insCCCCCCC , CM000664.1:g.44145125_44145126insCCCCCCC	GRCh37
NC_000002.10:g.43998629_43998630insCCCCCCC	NCBI36
NG_008247.1:g.83021_83022insGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.700+40_700+41insGGGGGGG
ENST00000682295.1:c.303+271_303+272insGGGGGGG	ENSP00000507499.1:n.303+271_303+272insGGGGGGG
ENST00000682303.1:c.*2934+40_*2934+41insGGGGGGG	ENSP00000508325.1:n.*2934+40_*2934+41insGGGGGGG
ENST00000682308.1:c.3148+40_3148+41insGGGGGGG	ENSP00000507056.1:n.3148+40_3148+41insGGGGGGG
ENST00000682480.1:c.3166+40_3166+41insGGGGGGG	ENSP00000508344.1:n.3166+40_3166+41insGGGGGGG
ENST00000682546.1:c.3145+40_3145+41insGGGGGGG	ENSP00000508188.1:n.3145+40_3145+41insGGGGGGG
ENST00000682585.1:c.3148+40_3148+41insGGGGGGG	ENSP00000506885.1:n.3148+40_3148+41insGGGGGGG
ENST00000682595.1:n.3732+40_3732+41insGGGGGGG
ENST00000682607.1:c.1566+40_1566+41insGGGGGGG
ENST00000682779.1:c.3139+40_3139+41insGGGGGGG	ENSP00000507947.1:n.3139+40_3139+41insGGGGGGG
ENST00000682845.1:n.2250+40_2250+41insGGGGGGG
ENST00000682885.1:c.3103+40_3103+41insGGGGGGG	ENSP00000508036.1:n.3103+40_3103+41insGGGGGGG
ENST00000682933.1:n.3222+40_3222+41insGGGGGGG
ENST00000683072.1:n.3732+40_3732+41insGGGGGGG
ENST00000683080.1:n.767+40_767+41insGGGGGGG
ENST00000683125.1:c.3256+40_3256+41insGGGGGGG	ENSP00000507939.1:n.3256+40_3256+41insGGGGGGG
ENST00000683213.1:c.3151+40_3151+41insGGGGGGG	ENSP00000507751.1:n.3151+40_3151+41insGGGGGGG
ENST00000683220.1:c.3178+40_3178+41insGGGGGGG	ENSP00000507151.1:n.3178+40_3178+41insGGGGGGG
ENST00000683329.1:n.3951+40_3951+41insGGGGGGG
ENST00000683346.1:c.*3023+40_*3023+41insGGGGGGG	ENSP00000507458.1:n.*3023+40_*3023+41insGGGGGGG
ENST00000683409.1:n.1755+40_1755+41insGGGGGGG
ENST00000683459.1:n.3735+40_3735+41insGGGGGGG
ENST00000683590.1:c.2897-5427_2897-5426insGGGGGGG	ENSP00000506820.1:n.2897-5427_2897-5426insGGGGGGG
ENST00000683623.1:c.3055+40_3055+41insGGGGGGG	ENSP00000507702.1:n.3055+40_3055+41insGGGGGGG
ENST00000683645.1:n.3699+40_3699+41insGGGGGGG
ENST00000683796.1:c.*3020+40_*3020+41insGGGGGGG	ENSP00000508221.1:n.*3020+40_*3020+41insGGGGGGG
ENST00000683802.1:n.6073+40_6073+41insGGGGGGG
ENST00000683833.1:c.3139+40_3139+41insGGGGGGG	ENSP00000506852.1:n.3139+40_3139+41insGGGGGGG
ENST00000683994.1:c.3148+40_3148+41insGGGGGGG	ENSP00000507181.1:n.3148+40_3148+41insGGGGGGG
ENST00000684290.1:c.*684+40_*684+41insGGGGGGG	ENSP00000507243.1:n.*684+40_*684+41insGGGGGGG
ENST00000684306.1:c.*3061+40_*3061+41insGGGGGGG	ENSP00000508384.1:n.*3061+40_*3061+41insGGGGGGG
ENST00000684341.1:n.3168+40_3168+41insGGGGGGG
ENST00000684383.1:c.*2786+40_*2786+41insGGGGGGG	ENSP00000506863.1:n.*2786+40_*2786+41insGGGGGGG
ENST00000684619.1:c.*3020+40_*3020+41insGGGGGGG	ENSP00000508088.1:n.*3020+40_*3020+41insGGGGGGG
ENST00000684705.1:n.309_310insGGGGGGG
ENST00000684743.1:n.4179+40_4179+41insGGGGGGG
ENST00000260665.12:c.3148+40_3148+41insGGGGGGG MANE Select	ENSP00000260665.7:n.3148+40_3148+41insGGGGGGG
ENST00000260665.11:c.3148+40_3148+41insGGGGGGG	ENSP00000260665.7:n.3148+40_3148+41insGGGGGGG
NM_133259.3:c.3148+40_3148+41insGGGGGGG	NP_573566.2:n.3148+40_3148+41insGGGGGGG
XM_006711915.2:c.3070+40_3070+41insGGGGGGG	XP_006711978.1:n.3070+40_3070+41insGGGGGGG
XM_006711916.2:c.3147+41_3147+42insGGGGGGG	XP_006711979.1:n.3147+41_3147+42insGGGGGGG
XM_011532473.1:c.3148+40_3148+41insGGGGGGG	XP_011530775.1:n.3148+40_3148+41insGGGGGGG
XM_011532474.1:c.3148+40_3148+41insGGGGGGG	XP_011530776.1:n.3148+40_3148+41insGGGGGGG
XM_006711916.3:c.3147+41_3147+42insGGGGGGG	XP_006711979.1:n.3147+41_3147+42insGGGGGGG
XM_017003117.1:c.3070+40_3070+41insGGGGGGG	XP_016858606.1:n.3070+40_3070+41insGGGGGGG
XR_002958896.1:n.3190+40_3190+41insGGGGGGG
NM_133259.4:c.3148+40_3148+41insGGGGGGG MANE Select	NP_573566.2:n.3148+40_3148+41insGGGGGGG