Canonical Allele Identifier: CA16609760

Gene: INF2

Linked Data

• ClinVar Variation Id: 402978
• ClinVar RCV Id: RCV000455444
• dbSNP Id: rs1060499868
• gnomAD v3: 14-104709346-TCAAA-T
• gnomAD v4: 14-104709346-TCAAA-T
• MyVariant Identifiers: chr14:g.105175687_105175690del (hg19) ; chr14:g.105175684_105175687del (hg19) ; chr14:g.104709350_104709353del (hg38) ; chr14:g.104709347_104709350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104709350_104709353del , CM000676.2:g.104709350_104709353del	GRCh38
NC_000014.8:g.105175687_105175690del , CM000676.1:g.105175687_105175690del	GRCh37
NC_000014.7:g.104246732_104246735del	NCBI36
NG_027684.1:g.24745_24748del

Transcript Alleles

HGVS	Amino-acid change
ENST00000392634.9:c.2019_2022del MANE Select	ENSP00000376410.4:p.Lys673AsnfsTer?
ENST00000617571.5:c.2019_2022del	ENSP00000483829.2:p.Lys673AsnfsTer?
ENST00000674520.1:c.2019_2022del	ENSP00000502593.1:p.Lys673AsnfsTer?
ENST00000674631.1:c.57_60del	ENSP00000502830.1:p.Lys19AsnfsTer?
ENST00000674662.1:c.2019_2022del	ENSP00000501895.1:p.Lys673AsnfsTer?
ENST00000674757.1:c.2019_2022del	ENSP00000502202.1:p.Lys673AsnfsTer?
ENST00000674822.1:c.1903_1906del	ENSP00000501552.1:n.1903_1906del
ENST00000674846.1:c.2019_2022del	ENSP00000502431.1:p.Lys673AsnfsTer?
ENST00000674857.1:c.2008_2011del	ENSP00000501687.1:n.2008_2011del
ENST00000674960.1:c.1877_1880del	ENSP00000501841.1:n.1877_1880del
ENST00000674991.1:c.1269_1272del	ENSP00000502004.1:p.Lys423AsnfsTer?
ENST00000674994.1:c.1985_1988del	ENSP00000502442.1:n.1985_1988del
ENST00000675207.1:c.2115_2118del	ENSP00000502644.1:p.Lys705AsnfsTer?
ENST00000675329.1:c.1995_1998del	ENSP00000502287.1:p.Lys665AsnfsTer?
ENST00000675481.1:c.2019_2022del	ENSP00000502723.1:p.Lys673AsnfsTer?
ENST00000675583.1:c.2019_2022del	ENSP00000501740.1:p.Lys673AsnfsTer?
ENST00000675638.1:c.2019_2022del	ENSP00000501647.1:p.Lys673AsnfsTer?
ENST00000675724.1:c.1957_1960del	ENSP00000502576.1:n.1957_1960del
ENST00000675771.1:c.1282_1285del	ENSP00000502104.1:n.1282_1285del
ENST00000675797.1:c.1424_1427del	ENSP00000502023.1:n.1424_1427del
ENST00000675809.1:c.2019_2022del	ENSP00000502587.1:p.Lys673AsnfsTer?
ENST00000675930.1:c.2019_2022del	ENSP00000502456.1:p.Lys673AsnfsTer?
ENST00000675980.1:c.2019_2022del	ENSP00000502520.1:p.Lys673AsnfsTer?
ENST00000676016.1:c.2019_2022del	ENSP00000502412.1:p.Lys673AsnfsTer?
ENST00000676366.1:c.2019_2022del	ENSP00000501605.1:p.Lys673AsnfsTer?
ENST00000252527.8:c.423_426del	ENSP00000252527.8:p.Lys141AsnfsTer?
ENST00000330634.11:c.2019_2022del	ENSP00000376406.3:p.Lys673AsnfsTer?
ENST00000392634.8:c.2019_2022del	ENSP00000376410.4:p.Lys673AsnfsTer?
ENST00000474229.1:n.512_515del
ENST00000617571.4:c.-2105_-2102del	ENSP00000483829.1:n.-2105_-2102del
NM_001031714.3:c.2019_2022del	NP_001026884.3:p.Lys673AsnfsTer?
NM_022489.3:c.2019_2022del	NP_071934.3:p.Lys673AsnfsTer?
XM_005268004.3:c.2115_2118del	XP_005268061.1:p.Lys705AsnfsTer?
XM_005268005.3:c.2115_2118del	XP_005268062.1:p.Lys705AsnfsTer?
XR_943507.1:n.2244_2247del
XM_005268004.4:c.2115_2118del	XP_005268061.1:p.Lys705AsnfsTer?
XM_005268005.4:c.2115_2118del	XP_005268062.1:p.Lys705AsnfsTer?
XM_017021595.1:c.2115_2118del	XP_016877084.1:p.Lys705AsnfsTer?
XR_001750518.1:n.2220_2223del
NM_001031714.4:c.2019_2022del	NP_001026884.3:p.Lys673AsnfsTer?
NM_022489.4:c.2019_2022del MANE Select	NP_071934.3:p.Lys673AsnfsTer?