Canonical Allele Identifier: CA2560972943
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209008_186209009del , CM000666.2:g.186209008_186209009del GRCh38
NC_000004.11:g.187130162_187130163del , CM000666.1:g.187130162_187130163del GRCh37
NC_000004.10:g.187367156_187367157del NCBI36
NG_007965.1:g.22489_22490del
NG_012095.2:g.5030_5031del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1225+9_1225+10del (CYP4V2) MANE Select ENSP00000368079.4:n.1225+9_1225+10del
ENST00000378802.4:c.1225+9_1225+10del (CYP4V2) ENSP00000368079.4:n.1225+9_1225+10del
ENST00000502665.1:n.460+9_460+10del (CYP4V2)
ENST00000507209.5:n.5923+9_5923+10del (CYP4V2)
ENST00000511608.5:c.21+9_21+10del (KLKB1)
ENST00000513354.5:n.315+9_315+10del (CYP4V2)
NM_207352.3:c.1225+9_1225+10del (CYP4V2) NP_997235.3:n.1225+9_1225+10del
XM_005262935.2:c.1225+9_1225+10del (CYP4V2) XP_005262992.1:n.1225+9_1225+10del
XM_006714184.2:c.829+9_829+10del (CYP4V2) XP_006714247.1:n.829+9_829+10del
XM_005262935.4:c.1225+9_1225+10del (CYP4V2) XP_005262992.1:n.1225+9_1225+10del
XM_017008037.1:c.829+9_829+10del (CYP4V2) XP_016863526.1:n.829+9_829+10del
NM_207352.4:c.1225+9_1225+10del (CYP4V2) MANE Select NP_997235.3:n.1225+9_1225+10del
Search 100 bp 5'
Search 100 bp 3'