Canonical Allele Identifier: CA1638264

Gene: LRPPRC

Linked Data

• dbSNP Id: rs762970920
• ExAC: 2:44145530 GTTTA / G
• gnomAD v2: 2-44145530-GTTTA-G
• gnomAD v4: 2-43918391-GTTTA-G
• MyVariant Identifiers: chr2:g.44145531_44145534del (hg19) ; chr2:g.43918392_43918395del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918395_43918398del , CM000664.2:g.43918395_43918398del	GRCh38
NC_000002.11:g.44145534_44145537del , CM000664.1:g.44145534_44145537del	GRCh37
NC_000002.10:g.43999038_43999041del	NCBI36
NG_008247.1:g.82611_82614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.452_455del
ENST00000682295.1:c.164_167del	ENSP00000507499.1:p.Ile55ThrfsTer26
ENST00000682303.1:c.*2686_*2689del	ENSP00000508325.1:n.*2686_*2689del
ENST00000682308.1:c.2900_2903del	ENSP00000507056.1:p.Ile967ThrfsTer26
ENST00000682480.1:c.2900_2903del	ENSP00000508344.1:p.Ile967ThrfsTer26
ENST00000682546.1:c.2897_2900del	ENSP00000508188.1:p.Ile966ThrfsTer26
ENST00000682585.1:c.2900_2903del	ENSP00000506885.1:p.Ile967ThrfsTer26
ENST00000682595.1:n.3484_3487del
ENST00000682607.1:c.1318_1321del
ENST00000682779.1:c.2891_2894del	ENSP00000507947.1:p.Ile964ThrfsTer26
ENST00000682845.1:n.2002_2005del
ENST00000682885.1:c.2855_2858del	ENSP00000508036.1:p.Ile952ThrfsTer26
ENST00000682933.1:n.2974_2977del
ENST00000683072.1:n.3484_3487del
ENST00000683080.1:n.519_522del
ENST00000683125.1:c.3008_3011del	ENSP00000507939.1:p.Ile1003ThrfsTer26
ENST00000683213.1:c.2903_2906del	ENSP00000507751.1:p.Ile968ThrfsTer26
ENST00000683220.1:c.2930_2933del	ENSP00000507151.1:p.Ile977ThrfsTer26
ENST00000683236.1:c.230_233del	ENSP00000506891.1:n.230_233del
ENST00000683329.1:n.3703_3706del
ENST00000683346.1:c.*2775_*2778del	ENSP00000507458.1:n.*2775_*2778del
ENST00000683409.1:n.1507_1510del
ENST00000683459.1:n.3487_3490del
ENST00000683590.1:c.2897-5837_2897-5834del	ENSP00000506820.1:n.2897-5837_2897-5834del
ENST00000683623.1:c.2807_2810del	ENSP00000507702.1:p.Ile936ThrfsTer26
ENST00000683645.1:n.3451_3454del
ENST00000683796.1:c.*2772_*2775del	ENSP00000508221.1:n.*2772_*2775del
ENST00000683802.1:n.5825_5828del
ENST00000683833.1:c.2891_2894del	ENSP00000506852.1:p.Ile964ThrfsTer26
ENST00000683994.1:c.2900_2903del	ENSP00000507181.1:p.Ile967ThrfsTer26
ENST00000684290.1:c.*436_*439del	ENSP00000507243.1:n.*436_*439del
ENST00000684306.1:c.*2813_*2816del	ENSP00000508384.1:n.*2813_*2816del
ENST00000684341.1:n.2920_2923del
ENST00000684383.1:c.*2538_*2541del	ENSP00000506863.1:n.*2538_*2541del
ENST00000684619.1:c.*2772_*2775del	ENSP00000508088.1:n.*2772_*2775del
ENST00000684705.1:n.21_24del
ENST00000684743.1:n.3931_3934del
ENST00000260665.12:c.2900_2903del MANE Select	ENSP00000260665.7:p.Ile967ThrfsTer26
ENST00000260665.11:c.2900_2903del	ENSP00000260665.7:p.Ile967ThrfsTer26
NM_133259.3:c.2900_2903del	NP_573566.2:p.Ile967ThrfsTer26
XM_006711915.2:c.2822_2825del	XP_006711978.1:p.Ile941ThrfsTer26
XM_006711916.2:c.2900_2903del	XP_006711979.1:p.Ile967ThrfsTer26
XM_011532473.1:c.2900_2903del	XP_011530775.1:p.Ile967ThrfsTer26
XM_011532474.1:c.2900_2903del	XP_011530776.1:p.Ile967ThrfsTer26
XM_006711916.3:c.2900_2903del	XP_006711979.1:p.Ile967ThrfsTer26
XM_017003117.1:c.2822_2825del	XP_016858606.1:p.Ile941ThrfsTer26
XR_002958896.1:n.2942_2945del
NM_133259.4:c.2900_2903del MANE Select	NP_573566.2:p.Ile967ThrfsTer26