Canonical Allele Identifier: CA532278426

Gene: LRPPRC

Linked Data

• gnomAD v2: 2-44145172-TGG-T
• gnomAD v4: 2-43918033-TGG-T
• MyVariant Identifiers: chr2:g.44145173_44145174del (hg19) ; chr2:g.43918034_43918035del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918034_43918035del , CM000664.2:g.43918034_43918035del	GRCh38
NC_000002.11:g.44145173_44145174del , CM000664.1:g.44145173_44145174del	GRCh37
NC_000002.10:g.43998677_43998678del	NCBI36
NG_008247.1:g.82971_82972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.690_691del
ENST00000682295.1:c.303+221_303+222del	ENSP00000507499.1:n.303+221_303+222del
ENST00000682303.1:c.*2924_*2925del	ENSP00000508325.1:n.*2924_*2925del
ENST00000682308.1:c.3138_3139del	ENSP00000507056.1:p.Asn1046LysfsTer7
ENST00000682480.1:c.3156_3157del	ENSP00000508344.1:p.Asn1052LysfsTer7
ENST00000682546.1:c.3135_3136del	ENSP00000508188.1:p.Asn1045LysfsTer7
ENST00000682585.1:c.3138_3139del	ENSP00000506885.1:p.Asn1046LysfsTer7
ENST00000682595.1:n.3722_3723del
ENST00000682607.1:c.1556_1557del
ENST00000682779.1:c.3129_3130del	ENSP00000507947.1:p.Asn1043LysfsTer7
ENST00000682845.1:n.2240_2241del
ENST00000682885.1:c.3093_3094del	ENSP00000508036.1:p.Asn1031LysfsTer7
ENST00000682933.1:n.3212_3213del
ENST00000683072.1:n.3722_3723del
ENST00000683080.1:n.757_758del
ENST00000683125.1:c.3246_3247del	ENSP00000507939.1:p.Asn1082LysfsTer7
ENST00000683213.1:c.3141_3142del	ENSP00000507751.1:p.Asn1047LysfsTer7
ENST00000683220.1:c.3168_3169del	ENSP00000507151.1:p.Asn1056LysfsTer7
ENST00000683329.1:n.3941_3942del
ENST00000683346.1:c.*3013_*3014del	ENSP00000507458.1:n.*3013_*3014del
ENST00000683409.1:n.1745_1746del
ENST00000683459.1:n.3725_3726del
ENST00000683590.1:c.2897-5477_2897-5476del	ENSP00000506820.1:n.2897-5477_2897-5476del
ENST00000683623.1:c.3045_3046del	ENSP00000507702.1:p.Asn1015LysfsTer7
ENST00000683645.1:n.3689_3690del
ENST00000683796.1:c.*3010_*3011del	ENSP00000508221.1:n.*3010_*3011del
ENST00000683802.1:n.6063_6064del
ENST00000683833.1:c.3129_3130del	ENSP00000506852.1:p.Asn1043LysfsTer7
ENST00000683994.1:c.3138_3139del	ENSP00000507181.1:p.Asn1046LysfsTer7
ENST00000684290.1:c.*674_*675del	ENSP00000507243.1:n.*674_*675del
ENST00000684306.1:c.*3051_*3052del	ENSP00000508384.1:n.*3051_*3052del
ENST00000684341.1:n.3158_3159del
ENST00000684383.1:c.*2776_*2777del	ENSP00000506863.1:n.*2776_*2777del
ENST00000684619.1:c.*3010_*3011del	ENSP00000508088.1:n.*3010_*3011del
ENST00000684705.1:n.259_260del
ENST00000684743.1:n.4169_4170del
ENST00000260665.12:c.3138_3139del MANE Select	ENSP00000260665.7:p.Asn1046LysfsTer7
ENST00000260665.11:c.3138_3139del	ENSP00000260665.7:p.Asn1046LysfsTer7
NM_133259.3:c.3138_3139del	NP_573566.2:p.Asn1046LysfsTer7
XM_006711915.2:c.3060_3061del	XP_006711978.1:p.Asn1020LysfsTer7
XM_006711916.2:c.3138_3139del	XP_006711979.1:p.Asn1046LysfsTer11
XM_011532473.1:c.3138_3139del	XP_011530775.1:p.Asn1046LysfsTer7
XM_011532474.1:c.3138_3139del	XP_011530776.1:p.Asn1046LysfsTer7
XM_006711916.3:c.3138_3139del	XP_006711979.1:p.Asn1046LysfsTer11
XM_017003117.1:c.3060_3061del	XP_016858606.1:p.Asn1020LysfsTer7
XR_002958896.1:n.3180_3181del
NM_133259.4:c.3138_3139del MANE Select	NP_573566.2:p.Asn1046LysfsTer7