Canonical Allele Identifier: CA2658837059

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918037-TCAATCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918040_43918046del , CM000664.2:g.43918040_43918046del	GRCh38
NC_000002.11:g.44145179_44145185del , CM000664.1:g.44145179_44145185del	GRCh37
NC_000002.10:g.43998683_43998689del	NCBI36
NG_008247.1:g.82962_82968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.681_687del
ENST00000682295.1:c.303+212_303+218del	ENSP00000507499.1:n.303+212_303+218del
ENST00000682303.1:c.*2915_*2921del	ENSP00000508325.1:n.*2915_*2921del
ENST00000682308.1:c.3129_3135del	ENSP00000507056.1:p.Cys1043Ter
ENST00000682480.1:c.3147_3153del	ENSP00000508344.1:p.Cys1049Ter
ENST00000682546.1:c.3126_3132del	ENSP00000508188.1:p.Cys1042Ter
ENST00000682585.1:c.3129_3135del	ENSP00000506885.1:p.Cys1043Ter
ENST00000682595.1:n.3713_3719del
ENST00000682607.1:c.1547_1553del
ENST00000682779.1:c.3120_3126del	ENSP00000507947.1:p.Cys1040Ter
ENST00000682845.1:n.2231_2237del
ENST00000682885.1:c.3084_3090del	ENSP00000508036.1:p.Cys1028Ter
ENST00000682933.1:n.3203_3209del
ENST00000683072.1:n.3713_3719del
ENST00000683080.1:n.748_754del
ENST00000683125.1:c.3237_3243del	ENSP00000507939.1:p.Cys1079Ter
ENST00000683213.1:c.3132_3138del	ENSP00000507751.1:p.Cys1044Ter
ENST00000683220.1:c.3159_3165del	ENSP00000507151.1:p.Cys1053Ter
ENST00000683329.1:n.3932_3938del
ENST00000683346.1:c.*3004_*3010del	ENSP00000507458.1:n.*3004_*3010del
ENST00000683409.1:n.1736_1742del
ENST00000683459.1:n.3716_3722del
ENST00000683590.1:c.2897-5486_2897-5480del	ENSP00000506820.1:n.2897-5486_2897-5480del
ENST00000683623.1:c.3036_3042del	ENSP00000507702.1:p.Cys1012Ter
ENST00000683645.1:n.3680_3686del
ENST00000683796.1:c.*3001_*3007del	ENSP00000508221.1:n.*3001_*3007del
ENST00000683802.1:n.6054_6060del
ENST00000683833.1:c.3120_3126del	ENSP00000506852.1:p.Cys1040Ter
ENST00000683994.1:c.3129_3135del	ENSP00000507181.1:p.Cys1043Ter
ENST00000684290.1:c.*665_*671del	ENSP00000507243.1:n.*665_*671del
ENST00000684306.1:c.*3042_*3048del	ENSP00000508384.1:n.*3042_*3048del
ENST00000684341.1:n.3149_3155del
ENST00000684383.1:c.*2767_*2773del	ENSP00000506863.1:n.*2767_*2773del
ENST00000684619.1:c.*3001_*3007del	ENSP00000508088.1:n.*3001_*3007del
ENST00000684705.1:n.250_256del
ENST00000684743.1:n.4160_4166del
ENST00000260665.12:c.3129_3135del MANE Select	ENSP00000260665.7:p.Cys1043Ter
ENST00000260665.11:c.3129_3135del	ENSP00000260665.7:p.Cys1043Ter
NM_133259.3:c.3129_3135del	NP_573566.2:p.Cys1043Ter
XM_006711915.2:c.3051_3057del	XP_006711978.1:p.Cys1017Ter
XM_006711916.2:c.3129_3135del	XP_006711979.1:p.Cys1043Ter
XM_011532473.1:c.3129_3135del	XP_011530775.1:p.Cys1043Ter
XM_011532474.1:c.3129_3135del	XP_011530776.1:p.Cys1043Ter
XM_006711916.3:c.3129_3135del	XP_006711979.1:p.Cys1043Ter
XM_017003117.1:c.3051_3057del	XP_016858606.1:p.Cys1017Ter
XR_002958896.1:n.3171_3177del
NM_133259.4:c.3129_3135del MANE Select	NP_573566.2:p.Cys1043Ter