Canonical Allele Identifier: CA531766672
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1192334882
gnomAD v2: 2-29295954-G-GCCTGGCCTCTGTGTGGGGTGAAGTCACCGACTT
gnomAD v4: 2-29073088-G-GCCTGGCCTCTGTGTGGGGTGAAGTCACCGACTT
MyVariant Identifiers: chr2:g.29295954_29295955insCCTGGCCTCTGTGTGGGGTGAAGTCACCGACTT (hg19) chr2:g.29073088_29073089insCCTGGCCTCTGTGTGGGGTGAAGTCACCGACTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073091_29073123dup , CM000664.2:g.29073091_29073123dup GRCh38
NC_000002.11:g.29295957_29295989dup , CM000664.1:g.29295957_29295989dup GRCh37
NC_000002.10:g.29149461_29149493dup NCBI36
NG_021427.1:g.6141_6173dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1141_1173dup MANE Select ENSP00000332809.4:p.Arg391_Gln392insLysSerValThrSerProHisThrG...
ENST00000331664.5:c.1141_1173dup ENSP00000332809.4:p.Arg391_Gln392insLysSerValThrSerProHisThrG...
NM_001029883.2:c.1141_1173dup NP_001025054.1:p.Arg391_Gln392insLysSerValThrSerProHisThrGluA...
XM_011532826.1:c.1141_1173dup XP_011531128.1:p.Arg391_Gln392insLysSerValThrSerProHisThrGluA...
XR_939901.1:n.185+3924_185+3956dup
XR_939902.1:n.173+3936_173+3968dup
NM_001029883.3:c.1141_1173dup MANE Select NP_001025054.1:p.Arg391_Gln392insLysSerValThrSerProHisThrGluA...
Search 100 bp 5'
Search 100 bp 3'