Canonical Allele Identifier: CA3714913

Gene: PRRC2A

Linked Data

• dbSNP Id: rs760157985
• ExAC: 6:31590680 TGA / T
• gnomAD v4: 6-31622903-TGA-T
• MyVariant Identifiers: chr6:g.31590681_31590682del (hg19) ; chr6:g.31622905_31622906del (hg38) ; chr6:g.31622904_31622905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31622907_31622908del , CM000668.2:g.31622907_31622908del	GRCh38
NC_000006.11:g.31590684_31590685del , CM000668.1:g.31590684_31590685del	GRCh37
NC_000006.10:g.31698663_31698664del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376033.3:c.112+6_112+7del MANE Select	ENSP00000365201.2:n.112+6_112+7del
ENST00000376007.8:c.112+6_112+7del	ENSP00000365175.4:n.112+6_112+7del
ENST00000376033.2:c.112+6_112+7del	ENSP00000365201.2:n.112+6_112+7del
ENST00000469577.5:n.136-1354_136-1353del
NM_004638.3:c.112+6_112+7del	NP_004629.3:n.112+6_112+7del
NM_080686.2:c.112+6_112+7del	NP_542417.2:n.112+6_112+7del
XM_011514890.1:c.112+6_112+7del	XP_011513192.1:n.112+6_112+7del
XM_017011274.1:c.112+6_112+7del	XP_016866763.1:n.112+6_112+7del
NM_004638.4:c.112+6_112+7del MANE Select	NP_004629.3:n.112+6_112+7del
NM_080686.3:c.112+6_112+7del	NP_542417.2:n.112+6_112+7del