Canonical Allele Identifier: CA1592498
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1036312
ClinVar RCV Id: RCV001339302
dbSNP Id: rs771566435
ExAC: 2:29296025 TGCTTGCCCA / T
gnomAD v2: 2-29296025-TGCTTGCCCA-T
gnomAD v4: 2-29073159-TGCTTGCCCA-T
MyVariant Identifiers: chr2:g.29296026_29296034del (hg19) chr2:g.29073160_29073168del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073165_29073173del , CM000664.2:g.29073165_29073173del GRCh38
NC_000002.11:g.29296031_29296039del , CM000664.1:g.29296031_29296039del GRCh37
NC_000002.10:g.29149535_29149543del NCBI36
NG_021427.1:g.6094_6102del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1094_1102del MANE Select ENSP00000332809.4:p.Leu365_Lys367del
ENST00000331664.5:c.1094_1102del ENSP00000332809.4:p.Leu365_Lys367del
NM_001029883.2:c.1094_1102del NP_001025054.1:p.Leu365_Lys367del
XM_011532826.1:c.1094_1102del XP_011531128.1:p.Leu365_Lys367del
XR_939901.1:n.185+3998_185+4006del
XR_939902.1:n.173+4010_173+4018del
NM_001029883.3:c.1094_1102del MANE Select NP_001025054.1:p.Leu365_Lys367del
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