Canonical Allele Identifier: CA823901277

Gene: PRRC2A

Linked Data

• dbSNP Id: rs1319286343
• gnomAD v4: 6-31635155-GCCCCCTGGC-G
• MyVariant Identifiers: chr6:g.31602933_31602941del (hg19) ; chr6:g.31635156_31635164del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31635159_31635167del , CM000668.2:g.31635159_31635167del	GRCh38
NC_000006.11:g.31602936_31602944del , CM000668.1:g.31602936_31602944del	GRCh37
NC_000006.10:g.31710915_31710923del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376033.3:c.5188_5196del MANE Select	ENSP00000365201.2:p.Pro1730_Pro1732del
ENST00000376007.8:c.5188_5196del	ENSP00000365175.4:p.Pro1730_Pro1732del
ENST00000376033.2:c.5188_5196del	ENSP00000365201.2:p.Pro1730_Pro1732del
ENST00000484787.1:n.599_607del
NM_004638.3:c.5188_5196del	NP_004629.3:p.Pro1730_Pro1732del
NM_080686.2:c.5188_5196del	NP_542417.2:p.Pro1730_Pro1732del
XM_011514890.1:c.5188_5196del	XP_011513192.1:p.Pro1730_Pro1732del
XM_017011274.1:c.5188_5196del	XP_016866763.1:p.Pro1730_Pro1732del
NM_004638.4:c.5188_5196del MANE Select	NP_004629.3:p.Pro1730_Pro1732del
NM_080686.3:c.5188_5196del	NP_542417.2:p.Pro1730_Pro1732del