Canonical Allele Identifier: CA531766683
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1224964558
gnomAD v2: 2-29295792-G-GGGAGGT
gnomAD v4: 2-29072926-G-GGGAGGT
MyVariant Identifiers: chr2:g.29295792_29295793insGGAGGT (hg19) chr2:g.29072926_29072927insGGAGGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072928_29072933dup , CM000664.2:g.29072928_29072933dup GRCh38
NC_000002.11:g.29295794_29295799dup , CM000664.1:g.29295794_29295799dup GRCh37
NC_000002.10:g.29149298_29149303dup NCBI36
NG_021427.1:g.6330_6335dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1330_1335dup MANE Select ENSP00000332809.4:p.Ser445_Pro446insThrSer
ENST00000331664.5:c.1330_1335dup ENSP00000332809.4:p.Ser445_Pro446insThrSer
NM_001029883.2:c.1330_1335dup NP_001025054.1:p.Ser445_Pro446insThrSer
XM_011532826.1:c.1330_1335dup XP_011531128.1:p.Ser445_Pro446insThrSer
XR_939901.1:n.185+3761_185+3766dup
XR_939902.1:n.173+3773_173+3778dup
NM_001029883.3:c.1330_1335dup MANE Select NP_001025054.1:p.Ser445_Pro446insThrSer
Search 100 bp 5'
Search 100 bp 3'