Canonical Allele Identifier: CA532278367

Gene: LRPPRC

Linked Data

• dbSNP Id: rs771562715
• gnomAD v2: 2-44145126-ACC-A
• gnomAD v3: 2-43917987-ACC-A
• gnomAD v4: 2-43917987-ACC-A
• MyVariant Identifiers: chr2:g.44145127_44145128del (hg19) ; chr2:g.43917988_43917989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43917993_43917994del , CM000664.2:g.43917993_43917994del	GRCh38
NC_000002.11:g.44145132_44145133del , CM000664.1:g.44145132_44145133del	GRCh37
NC_000002.10:g.43998636_43998637del	NCBI36
NG_008247.1:g.83017_83018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.700+36_700+37del
ENST00000682295.1:c.303+267_303+268del	ENSP00000507499.1:n.303+267_303+268del
ENST00000682303.1:c.*2934+36_*2934+37del	ENSP00000508325.1:n.*2934+36_*2934+37del
ENST00000682308.1:c.3148+36_3148+37del	ENSP00000507056.1:n.3148+36_3148+37del
ENST00000682480.1:c.3166+36_3166+37del	ENSP00000508344.1:n.3166+36_3166+37del
ENST00000682546.1:c.3145+36_3145+37del	ENSP00000508188.1:n.3145+36_3145+37del
ENST00000682585.1:c.3148+36_3148+37del	ENSP00000506885.1:n.3148+36_3148+37del
ENST00000682595.1:n.3732+36_3732+37del
ENST00000682607.1:c.1566+36_1566+37del
ENST00000682779.1:c.3139+36_3139+37del	ENSP00000507947.1:n.3139+36_3139+37del
ENST00000682845.1:n.2250+36_2250+37del
ENST00000682885.1:c.3103+36_3103+37del	ENSP00000508036.1:n.3103+36_3103+37del
ENST00000682933.1:n.3222+36_3222+37del
ENST00000683072.1:n.3732+36_3732+37del
ENST00000683080.1:n.767+36_767+37del
ENST00000683125.1:c.3256+36_3256+37del	ENSP00000507939.1:n.3256+36_3256+37del
ENST00000683213.1:c.3151+36_3151+37del	ENSP00000507751.1:n.3151+36_3151+37del
ENST00000683220.1:c.3178+36_3178+37del	ENSP00000507151.1:n.3178+36_3178+37del
ENST00000683329.1:n.3951+36_3951+37del
ENST00000683346.1:c.*3023+36_*3023+37del	ENSP00000507458.1:n.*3023+36_*3023+37del
ENST00000683409.1:n.1755+36_1755+37del
ENST00000683459.1:n.3735+36_3735+37del
ENST00000683590.1:c.2897-5431_2897-5430del	ENSP00000506820.1:n.2897-5431_2897-5430del
ENST00000683623.1:c.3055+36_3055+37del	ENSP00000507702.1:n.3055+36_3055+37del
ENST00000683645.1:n.3699+36_3699+37del
ENST00000683796.1:c.*3020+36_*3020+37del	ENSP00000508221.1:n.*3020+36_*3020+37del
ENST00000683802.1:n.6073+36_6073+37del
ENST00000683833.1:c.3139+36_3139+37del	ENSP00000506852.1:n.3139+36_3139+37del
ENST00000683994.1:c.3148+36_3148+37del	ENSP00000507181.1:n.3148+36_3148+37del
ENST00000684290.1:c.*684+36_*684+37del	ENSP00000507243.1:n.*684+36_*684+37del
ENST00000684306.1:c.*3061+36_*3061+37del	ENSP00000508384.1:n.*3061+36_*3061+37del
ENST00000684341.1:n.3168+36_3168+37del
ENST00000684383.1:c.*2786+36_*2786+37del	ENSP00000506863.1:n.*2786+36_*2786+37del
ENST00000684619.1:c.*3020+36_*3020+37del	ENSP00000508088.1:n.*3020+36_*3020+37del
ENST00000684705.1:n.305_306del
ENST00000684743.1:n.4179+36_4179+37del
ENST00000260665.12:c.3148+36_3148+37del MANE Select	ENSP00000260665.7:n.3148+36_3148+37del
ENST00000260665.11:c.3148+36_3148+37del	ENSP00000260665.7:n.3148+36_3148+37del
NM_133259.3:c.3148+36_3148+37del	NP_573566.2:n.3148+36_3148+37del
XM_006711915.2:c.3070+36_3070+37del	XP_006711978.1:n.3070+36_3070+37del
XM_006711916.2:c.3147+37_3147+38del	XP_006711979.1:n.3147+37_3147+38del
XM_011532473.1:c.3148+36_3148+37del	XP_011530775.1:n.3148+36_3148+37del
XM_011532474.1:c.3148+36_3148+37del	XP_011530776.1:n.3148+36_3148+37del
XM_006711916.3:c.3147+37_3147+38del	XP_006711979.1:n.3147+37_3147+38del
XM_017003117.1:c.3070+36_3070+37del	XP_016858606.1:n.3070+36_3070+37del
XR_002958896.1:n.3190+36_3190+37del
NM_133259.4:c.3148+36_3148+37del MANE Select	NP_573566.2:n.3148+36_3148+37del