Canonical Allele Identifier: CA2829882
Gene: LRPAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1526247
ClinVar RCV Id: RCV002052267
dbSNP Id: rs763010898
ExAC: 4:3519803 GGTCC / G
gnomAD v2: 4-3519803-GGTCC-G
gnomAD v4: 4-3518076-GGTCC-G
MyVariant Identifiers: chr4:g.3519804_3519807del (hg19) chr4:g.3518077_3518080del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3518077_3518080del , CM000666.2:g.3518077_3518080del GRCh38
NC_000004.11:g.3519804_3519807del , CM000666.1:g.3519804_3519807del GRCh37
NC_000004.10:g.3489602_3489605del NCBI36
NG_033873.1:g.19418_19421del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648517.1:c.705_708del ENSP00000496947.1:p.Asp236AlafsTer?
ENST00000650182.1:c.705_708del MANE Select ENSP00000497444.1:p.Asp236AlafsTer21
ENST00000296325.9:n.668_671del
ENST00000500728.2:c.705_708del ENSP00000421922.1:p.Asp236AlafsTer21
ENST00000509198.1:n.751_754del
ENST00000515119.5:c.*482_*485del ENSP00000421648.1:n.*482_*485del
NM_002337.3:c.705_708del NP_002328.1:p.Asp236AlafsTer21
NR_110005.1:n.668_671del
NM_002337.4:c.705_708del MANE Select NP_002328.1:p.Asp236AlafsTer21
XR_002959730.1:n.790_793del
NR_110005.2:n.668_671del
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