Canonical Allele Identifier: CA1637886

Gene: LRPPRC

Linked Data

• dbSNP Id: rs769660248
• ExAC: 2:44121787 G / GTTTTCA
• gnomAD v2: 2-44121787-G-GTTTTCA
• gnomAD v4: 2-43894648-G-GTTTTCA
• MyVariant Identifiers: chr2:g.44121787_44121788insTTTTCA (hg19) ; chr2:g.43894648_43894649insTTTTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894649_43894650insTTTCAT , CM000664.2:g.43894649_43894650insTTTCAT	GRCh38
NC_000002.11:g.44121788_44121789insTTTCAT , CM000664.1:g.44121788_44121789insTTTCAT	GRCh37
NC_000002.10:g.43975292_43975293insTTTCAT	NCBI36
NG_008247.1:g.106357_106358insTGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.531-20_531-19insTGAAAA
ENST00000681993.1:n.1453-20_1453-19insTGAAAA
ENST00000682154.1:n.1335-20_1335-19insTGAAAA
ENST00000682303.1:c.*3612-20_*3612-19insTGAAAA	ENSP00000508325.1:n.*3612-20_*3612-19insTGAAAA
ENST00000682308.1:c.3826-20_3826-19insTGAAAA	ENSP00000507056.1:n.3826-20_3826-19insTGAAAA
ENST00000682434.1:n.3436_3437insTGAAAA
ENST00000682480.1:c.3919-20_3919-19insTGAAAA	ENSP00000508344.1:n.3919-20_3919-19insTGAAAA
ENST00000682546.1:c.3898-20_3898-19insTGAAAA	ENSP00000508188.1:n.3898-20_3898-19insTGAAAA
ENST00000682585.1:c.*29-20_*29-19insTGAAAA	ENSP00000506885.1:n.*29-20_*29-19insTGAAAA
ENST00000682607.1:c.2644-20_2644-19insTGAAAA
ENST00000682612.1:c.752+1985_752+1986insTGAAAA
ENST00000682779.1:c.3892-20_3892-19insTGAAAA	ENSP00000507947.1:n.3892-20_3892-19insTGAAAA
ENST00000682885.1:c.3856-20_3856-19insTGAAAA	ENSP00000508036.1:n.3856-20_3856-19insTGAAAA
ENST00000682933.1:n.4101-20_4101-19insTGAAAA
ENST00000683002.1:c.753-20_753-19insTGAAAA
ENST00000683072.1:n.4485-20_4485-19insTGAAAA
ENST00000683080.1:n.1520-20_1520-19insTGAAAA
ENST00000683096.1:n.2342-20_2342-19insTGAAAA
ENST00000683125.1:c.4009-20_4009-19insTGAAAA	ENSP00000507939.1:n.4009-20_4009-19insTGAAAA
ENST00000683213.1:c.3904-20_3904-19insTGAAAA	ENSP00000507751.1:n.3904-20_3904-19insTGAAAA
ENST00000683220.1:c.3931-20_3931-19insTGAAAA	ENSP00000507151.1:n.3931-20_3931-19insTGAAAA
ENST00000683329.1:n.4704-20_4704-19insTGAAAA
ENST00000683346.1:c.*3776-20_*3776-19insTGAAAA	ENSP00000507458.1:n.*3776-20_*3776-19insTGAAAA
ENST00000683409.1:n.2433-20_2433-19insTGAAAA
ENST00000683459.1:n.4488-20_4488-19insTGAAAA
ENST00000683590.1:c.3574-20_3574-19insTGAAAA	ENSP00000506820.1:n.3574-20_3574-19insTGAAAA
ENST00000683623.1:c.3808-20_3808-19insTGAAAA	ENSP00000507702.1:n.3808-20_3808-19insTGAAAA
ENST00000683796.1:c.*3698-20_*3698-19insTGAAAA	ENSP00000508221.1:n.*3698-20_*3698-19insTGAAAA
ENST00000683833.1:c.3817-20_3817-19insTGAAAA	ENSP00000506852.1:n.3817-20_3817-19insTGAAAA
ENST00000683994.1:c.*14-20_*14-19insTGAAAA	ENSP00000507181.1:n.*14-20_*14-19insTGAAAA
ENST00000684290.1:c.*1362-20_*1362-19insTGAAAA	ENSP00000507243.1:n.*1362-20_*1362-19insTGAAAA
ENST00000684306.1:c.*3814-20_*3814-19insTGAAAA	ENSP00000508384.1:n.*3814-20_*3814-19insTGAAAA
ENST00000684383.1:c.*3539-20_*3539-19insTGAAAA	ENSP00000506863.1:n.*3539-20_*3539-19insTGAAAA
ENST00000684418.1:n.5082-20_5082-19insTGAAAA
ENST00000684433.1:n.285-20_285-19insTGAAAA
ENST00000684454.1:n.7745_7746insTGAAAA
ENST00000684619.1:c.*3773-20_*3773-19insTGAAAA	ENSP00000508088.1:n.*3773-20_*3773-19insTGAAAA
ENST00000684743.1:n.6646-20_6646-19insTGAAAA
ENST00000260665.12:c.3901-20_3901-19insTGAAAA MANE Select	ENSP00000260665.7:n.3901-20_3901-19insTGAAAA
ENST00000260665.11:c.3901-20_3901-19insTGAAAA	ENSP00000260665.7:n.3901-20_3901-19insTGAAAA
ENST00000419884.5:c.142-20_142-19insTGAAAA	ENSP00000414207.1:n.142-20_142-19insTGAAAA
ENST00000463456.5:n.2944-20_2944-19insTGAAAA
NM_133259.3:c.3901-20_3901-19insTGAAAA	NP_573566.2:n.3901-20_3901-19insTGAAAA
XM_006711915.2:c.3823-20_3823-19insTGAAAA	XP_006711978.1:n.3823-20_3823-19insTGAAAA
XM_011532473.1:c.3826-20_3826-19insTGAAAA	XP_011530775.1:n.3826-20_3826-19insTGAAAA
XM_011532474.1:c.3901-20_3901-19insTGAAAA	XP_011530776.1:n.3901-20_3901-19insTGAAAA
XM_017003117.1:c.3748-20_3748-19insTGAAAA	XP_016858606.1:n.3748-20_3748-19insTGAAAA
XR_002958896.1:n.3943-20_3943-19insTGAAAA
NM_133259.4:c.3901-20_3901-19insTGAAAA MANE Select	NP_573566.2:n.3901-20_3901-19insTGAAAA