Canonical Allele Identifier: CA531766649

Gene: PCARE

Linked Data

• gnomAD v2: 2-29293906-T-TG
• gnomAD v3: 2-29071040-T-TG
• gnomAD v4: 2-29071040-T-TG
• MyVariant Identifiers: chr2:g.29293906_29293907insG (hg19) ; chr2:g.29071040_29071041insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071046dup , CM000664.2:g.29071046dup	GRCh38
NC_000002.11:g.29293912dup , CM000664.1:g.29293912dup	GRCh37
NC_000002.10:g.29147416dup	NCBI36
NG_021427.1:g.8221dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3221dup MANE Select	ENSP00000332809.4:p.Thr1075AsnfsTer?
ENST00000331664.5:c.3221dup	ENSP00000332809.4:p.Thr1075AsnfsTer?
NM_001029883.2:c.3221dup	NP_001025054.1:p.Thr1075AsnfsTer?
XM_011532826.1:c.3221dup	XP_011531128.1:p.Thr1075AsnfsTer?
XR_939901.1:n.185+1879dup
XR_939902.1:n.173+1891dup
NM_001029883.3:c.3221dup MANE Select	NP_001025054.1:p.Thr1075AsnfsTer?