Canonical Allele Identifier: CA2672897509

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186208989-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208989_186208990insA , CM000666.2:g.186208989_186208990insA	GRCh38
NC_000004.11:g.187130143_187130144insA , CM000666.1:g.187130143_187130144insA	GRCh37
NC_000004.10:g.187367137_187367138insA	NCBI36
NG_007965.1:g.22470_22471insA
NG_012095.2:g.5011_5012insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1215_1216insA (CYP4V2) MANE Select	ENSP00000368079.4:p.Cys406MetfsTer2
ENST00000378802.4:c.1215_1216insA (CYP4V2)	ENSP00000368079.4:p.Cys406MetfsTer2
ENST00000502665.1:n.450_451insA (CYP4V2)
ENST00000507209.5:n.5913_5914insA (CYP4V2)
ENST00000511608.5:c.11_12insA (KLKB1)
ENST00000513354.5:n.305_306insA (CYP4V2)
NM_207352.3:c.1215_1216insA (CYP4V2)	NP_997235.3:p.Cys406MetfsTer2
XM_005262935.2:c.1215_1216insA (CYP4V2)	XP_005262992.1:p.Cys406MetfsTer2
XM_006714184.2:c.819_820insA (CYP4V2)	XP_006714247.1:p.Cys274MetfsTer2
XM_005262935.4:c.1215_1216insA (CYP4V2)	XP_005262992.1:p.Cys406MetfsTer2
XM_017008037.1:c.819_820insA (CYP4V2)	XP_016863526.1:p.Cys274MetfsTer2
NM_207352.4:c.1215_1216insA (CYP4V2) MANE Select	NP_997235.3:p.Cys406MetfsTer2