Canonical Allele Identifier: CA2658449521

Gene: PCARE

Linked Data

• gnomAD v4: 2-29071040-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071045_29071046del , CM000664.2:g.29071045_29071046del	GRCh38
NC_000002.11:g.29293911_29293912del , CM000664.1:g.29293911_29293912del	GRCh37
NC_000002.10:g.29147415_29147416del	NCBI36
NG_021427.1:g.8220_8221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3220_3221del MANE Select	ENSP00000332809.4:p.Pro1074AsnfsTer?
ENST00000331664.5:c.3220_3221del	ENSP00000332809.4:p.Pro1074AsnfsTer?
NM_001029883.2:c.3220_3221del	NP_001025054.1:p.Pro1074AsnfsTer?
XM_011532826.1:c.3220_3221del	XP_011531128.1:p.Pro1074AsnfsTer?
XR_939901.1:n.185+1878_185+1879del
XR_939902.1:n.173+1890_173+1891del
NM_001029883.3:c.3220_3221del MANE Select	NP_001025054.1:p.Pro1074AsnfsTer?