Canonical Allele Identifier: CA2658449123
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29070950-GTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070954_29070955del , CM000664.2:g.29070954_29070955del GRCh38
NC_000002.11:g.29293820_29293821del , CM000664.1:g.29293820_29293821del GRCh37
NC_000002.10:g.29147324_29147325del NCBI36
NG_021427.1:g.8310_8311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3310_3311del MANE Select ENSP00000332809.4:p.Asp1104LeufsTer2
ENST00000331664.5:c.3310_3311del ENSP00000332809.4:p.Asp1104LeufsTer2
NM_001029883.2:c.3310_3311del NP_001025054.1:p.Asp1104LeufsTer2
XM_011532826.1:c.3310_3311del XP_011531128.1:p.Asp1104LeufsTer2
XR_939901.1:n.185+1787_185+1788del
XR_939902.1:n.173+1799_173+1800del
NM_001029883.3:c.3310_3311del MANE Select NP_001025054.1:p.Asp1104LeufsTer2
Search 100 bp 5'
Search 100 bp 3'