Canonical Allele Identifier: CA2693589384

Gene: CFP

Linked Data

• gnomAD v4: X-47627608-T-TCACAGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627609_47627610insACAGGGCC , CM000685.2:g.47627609_47627610insACAGGGCC	GRCh38
NC_000023.10:g.47487008_47487009insACAGGGCC , CM000685.1:g.47487008_47487009insACAGGGCC	GRCh37
NC_000023.9:g.47371952_47371953insACAGGGCC	NCBI36
NG_009893.1:g.7697_7698insGCCCTGTG , LRG_129:g.7697_7698insGCCCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.436_437insGCCCTGTG MANE Select	ENSP00000380189.3:p.Glu146GlyfsTer?
ENST00000640573.1:n.674_675insGCCCTGTG
ENST00000247153.7:c.436_437insGCCCTGTG	ENSP00000247153.3:p.Glu146GlyfsTer?
ENST00000377005.6:c.436_437insGCCCTGTG	ENSP00000366204.2:p.Glu146GlyfsTer?
ENST00000396992.7:c.436_437insGCCCTGTG	ENSP00000380189.3:p.Glu146GlyfsTer?
ENST00000469388.1:c.31_32insGCCCTGTG	ENSP00000418258.1:p.Glu11GlyfsTer?
ENST00000485991.5:n.1733_1734insGCCCTGTG
NM_001145252.1:c.436_437insGCCCTGTG	NP_001138724.1:p.Glu146GlyfsTer?
NM_002621.2:c.436_437insGCCCTGTG , LRG_129t1:c.436_437insGCCCTGTG	NP_002612.1:p.Glu146GlyfsTer?
XM_017029575.1:c.31_32insGCCCTGTG	XP_016885064.1:p.Glu11GlyfsTer?
NM_001145252.3:c.436_437insGCCCTGTG MANE Select	NP_001138724.1:p.Glu146GlyfsTer?