Canonical Allele Identifier: CA658799739

Gene: FOXP3

Linked Data

• ClinVar Variation Id: 499890
• ClinVar RCV Id: RCV000595405 ; RCV001380271
• dbSNP Id: rs1557116163
• MyVariant Identifiers: chrX:g.49111956_49111958del (hg19) ; chrX:g.49255495_49255497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255497_49255499del , CM000685.2:g.49255497_49255499del	GRCh38
NC_000023.10:g.49111958_49111960del , CM000685.1:g.49111958_49111960del	GRCh37
NC_000023.9:g.48998902_48998904del	NCBI36
NG_007392.1:g.14331_14333del , LRG_62:g.14331_14333del
NG_021311.2:g.25033_25035del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.643_645del	ENSP00000365372.2:p.Lys215del
ENST00000376207.10:c.748_750del MANE Select	ENSP00000365380.4:p.Lys250del
ENST00000455775.7:c.817_819del	ENSP00000396415.3:p.Lys273del
ENST00000518685.6:c.735+218_735+220del	ENSP00000428952.2:n.735+218_735+220del
ENST00000557224.6:c.643_645del	ENSP00000451208.1:p.Lys215del
ENST00000651307.1:c.748_750del	ENSP00000498454.1:p.Lys250del
ENST00000376197.1:c.598_600del	ENSP00000365369.1:p.Lys200del
ENST00000376199.6:c.643_645del	ENSP00000365372.2:p.Lys215del
ENST00000376207.8:c.748_750del	ENSP00000365380.4:p.Lys250del
ENST00000455775.6:c.817_819del	ENSP00000396415.3:p.Lys273del
ENST00000518685.5:c.643_645del	ENSP00000428952.1:p.Lys215del
ENST00000557224.5:c.643_645del	ENSP00000451208.1:p.Lys215del
NM_001114377.1:c.643_645del	NP_001107849.1:p.Lys215del
NM_014009.3:c.748_750del , LRG_62t1:c.748_750del	NP_054728.2:p.Lys250del
XM_006724533.2:c.817_819del	XP_006724596.2:p.Lys273del
XM_011543915.1:c.967_969del	XP_011542217.1:p.Lys323del
XM_011543916.1:c.967_969del	XP_011542218.1:p.Lys323del
XM_011543917.1:c.766_768del	XP_011542219.1:p.Lys256del
XM_011543918.1:c.1003_1005del	XP_011542220.1:p.Lys335del
XM_011543919.1:c.967_969del	XP_011542221.1:p.Lys323del
XM_017029567.1:c.694_696del	XP_016885056.1:p.Lys232del
NM_001114377.2:c.643_645del	NP_001107849.1:p.Lys215del
NM_014009.4:c.748_750del MANE Select	NP_054728.2:p.Lys250del