Canonical Allele Identifier: CA557395946

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1297083627
• gnomAD v2: 4-187131829-AGGT-A
• MyVariant Identifiers: chr4:g.187131830_187131832del (hg19) ; chr4:g.186210676_186210678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210676_186210678del , CM000666.2:g.186210676_186210678del	GRCh38
NC_000004.11:g.187131830_187131832del , CM000666.1:g.187131830_187131832del	GRCh37
NC_000004.10:g.187368824_187368826del	NCBI36
NG_007965.1:g.24157_24159del
NG_012095.2:g.6698_6700del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*35_*37del (CYP4V2) MANE Select	ENSP00000368079.4:n.*35_*37del
ENST00000378802.4:c.*35_*37del (CYP4V2)	ENSP00000368079.4:n.*35_*37del
ENST00000502665.1:n.848_850del (CYP4V2)
ENST00000507209.5:n.6311_6313del (CYP4V2)
ENST00000511608.5:c.201+1404_201+1406del (KLKB1)
ENST00000513354.5:n.703_705del (CYP4V2)
NM_207352.3:c.*35_*37del (CYP4V2)	NP_997235.3:n.*35_*37del
XM_005262935.2:c.*35_*37del (CYP4V2)	XP_005262992.1:n.*35_*37del
XM_006714184.2:c.*35_*37del (CYP4V2)	XP_006714247.1:n.*35_*37del
XM_005262935.4:c.*35_*37del (CYP4V2)	XP_005262992.1:n.*35_*37del
XM_017008037.1:c.*35_*37del (CYP4V2)	XP_016863526.1:n.*35_*37del
NM_207352.4:c.*35_*37del (CYP4V2) MANE Select	NP_997235.3:n.*35_*37del