Canonical Allele Identifier: CA557395910

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1243621710
• gnomAD v2: 4-187131833-CTTTATTTT-C
• MyVariant Identifiers: chr4:g.187131834_187131841del (hg19) ; chr4:g.186210680_186210687del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210680_186210687del , CM000666.2:g.186210680_186210687del	GRCh38
NC_000004.11:g.187131834_187131841del , CM000666.1:g.187131834_187131841del	GRCh37
NC_000004.10:g.187368828_187368835del	NCBI36
NG_007965.1:g.24161_24168del
NG_012095.2:g.6702_6709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*39_*46del (CYP4V2) MANE Select	ENSP00000368079.4:n.*39_*46del
ENST00000378802.4:c.*39_*46del (CYP4V2)	ENSP00000368079.4:n.*39_*46del
ENST00000502665.1:n.852_859del (CYP4V2)
ENST00000507209.5:n.6315_6322del (CYP4V2)
ENST00000511608.5:c.201+1408_201+1415del (KLKB1)
ENST00000513354.5:n.707_714del (CYP4V2)
NM_207352.3:c.*39_*46del (CYP4V2)	NP_997235.3:n.*39_*46del
XM_005262935.2:c.*39_*46del (CYP4V2)	XP_005262992.1:n.*39_*46del
XM_006714184.2:c.*39_*46del (CYP4V2)	XP_006714247.1:n.*39_*46del
XM_005262935.4:c.*39_*46del (CYP4V2)	XP_005262992.1:n.*39_*46del
XM_017008037.1:c.*39_*46del (CYP4V2)	XP_016863526.1:n.*39_*46del
NM_207352.4:c.*39_*46del (CYP4V2) MANE Select	NP_997235.3:n.*39_*46del