Canonical Allele Identifier: CA532278686

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1293053181
• gnomAD v2: 2-44145668-CAA-C
• gnomAD v3: 2-43918529-CAA-C
• gnomAD v4: 2-43918529-CAA-C
• MyVariant Identifiers: chr2:g.44145669_44145670del (hg19) ; chr2:g.43918530_43918531del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918532_43918533del , CM000664.2:g.43918532_43918533del	GRCh38
NC_000002.11:g.44145671_44145672del , CM000664.1:g.44145671_44145672del	GRCh37
NC_000002.10:g.43999175_43999176del	NCBI36
NG_008247.1:g.82475_82476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.316_317del
ENST00000682295.1:c.161-133_161-132del	ENSP00000507499.1:n.161-133_161-132del
ENST00000682303.1:c.*2683-133_*2683-132del	ENSP00000508325.1:n.*2683-133_*2683-132del
ENST00000682308.1:c.2897-133_2897-132del	ENSP00000507056.1:n.2897-133_2897-132del
ENST00000682480.1:c.2897-133_2897-132del	ENSP00000508344.1:n.2897-133_2897-132del
ENST00000682546.1:c.2894-133_2894-132del	ENSP00000508188.1:n.2894-133_2894-132del
ENST00000682585.1:c.2897-133_2897-132del	ENSP00000506885.1:n.2897-133_2897-132del
ENST00000682595.1:n.3481-133_3481-132del
ENST00000682607.1:c.1315-133_1315-132del
ENST00000682779.1:c.2888-133_2888-132del	ENSP00000507947.1:n.2888-133_2888-132del
ENST00000682845.1:n.1999-133_1999-132del
ENST00000682885.1:c.2852-133_2852-132del	ENSP00000508036.1:n.2852-133_2852-132del
ENST00000682933.1:n.2971-133_2971-132del
ENST00000683072.1:n.3481-133_3481-132del
ENST00000683080.1:n.516-133_516-132del
ENST00000683125.1:c.3005-133_3005-132del	ENSP00000507939.1:n.3005-133_3005-132del
ENST00000683213.1:c.2900-133_2900-132del	ENSP00000507751.1:n.2900-133_2900-132del
ENST00000683220.1:c.2927-133_2927-132del	ENSP00000507151.1:n.2927-133_2927-132del
ENST00000683236.1:c.227-133_227-132del	ENSP00000506891.1:n.227-133_227-132del
ENST00000683329.1:n.3700-133_3700-132del
ENST00000683346.1:c.*2772-133_*2772-132del	ENSP00000507458.1:n.*2772-133_*2772-132del
ENST00000683409.1:n.1371_1372del
ENST00000683459.1:n.3484-133_3484-132del
ENST00000683590.1:c.2897-5973_2897-5972del	ENSP00000506820.1:n.2897-5973_2897-5972del
ENST00000683623.1:c.2804-133_2804-132del	ENSP00000507702.1:n.2804-133_2804-132del
ENST00000683645.1:n.3448-133_3448-132del
ENST00000683796.1:c.*2769-133_*2769-132del	ENSP00000508221.1:n.*2769-133_*2769-132del
ENST00000683802.1:n.5822-133_5822-132del
ENST00000683833.1:c.2888-133_2888-132del	ENSP00000506852.1:n.2888-133_2888-132del
ENST00000683994.1:c.2897-133_2897-132del	ENSP00000507181.1:n.2897-133_2897-132del
ENST00000684290.1:c.*433-133_*433-132del	ENSP00000507243.1:n.*433-133_*433-132del
ENST00000684306.1:c.*2810-133_*2810-132del	ENSP00000508384.1:n.*2810-133_*2810-132del
ENST00000684341.1:n.2917-133_2917-132del
ENST00000684383.1:c.*2535-133_*2535-132del	ENSP00000506863.1:n.*2535-133_*2535-132del
ENST00000684619.1:c.*2769-133_*2769-132del	ENSP00000508088.1:n.*2769-133_*2769-132del
ENST00000684743.1:n.3928-133_3928-132del
ENST00000260665.12:c.2897-133_2897-132del MANE Select	ENSP00000260665.7:n.2897-133_2897-132del
ENST00000260665.11:c.2897-133_2897-132del	ENSP00000260665.7:n.2897-133_2897-132del
NM_133259.3:c.2897-133_2897-132del	NP_573566.2:n.2897-133_2897-132del
XM_006711915.2:c.2819-133_2819-132del	XP_006711978.1:n.2819-133_2819-132del
XM_006711916.2:c.2897-133_2897-132del	XP_006711979.1:n.2897-133_2897-132del
XM_011532473.1:c.2897-133_2897-132del	XP_011530775.1:n.2897-133_2897-132del
XM_011532474.1:c.2897-133_2897-132del	XP_011530776.1:n.2897-133_2897-132del
XM_006711916.3:c.2897-133_2897-132del	XP_006711979.1:n.2897-133_2897-132del
XM_017003117.1:c.2819-133_2819-132del	XP_016858606.1:n.2819-133_2819-132del
XR_002958896.1:n.2939-133_2939-132del
NM_133259.4:c.2897-133_2897-132del MANE Select	NP_573566.2:n.2897-133_2897-132del