Canonical Allele Identifier: CA679008650

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1216735249
• MyVariant Identifiers: chr11:g.61732002del (hg19) ; chr11:g.61964530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964532del , CM000673.2:g.61964532del	GRCh38
NC_000011.9:g.61732004del , CM000673.1:g.61732004del	GRCh37
NC_000011.8:g.61488580del	NCBI36
NG_008346.1:g.8131del
NG_009033.1:g.19649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*197del (FTH1) MANE Select	ENSP00000273550.7:n.*197del
ENST00000273550.11:c.*197del (FTH1)	ENSP00000273550.7:n.*197del
ENST00000449131.6:c.*1383del (BEST1)	ENSP00000399709.2:n.*1383del
ENST00000529191.5:c.114+2782del (FTH1)	ENSP00000431659.1:n.114+2782del
ENST00000529631.5:c.114+2782del (FTH1)	ENSP00000431575.1:n.114+2782del
ENST00000530019.5:c.261+839del (FTH1)	ENSP00000433470.1:n.261+839del
NM_002032.2:c.*197del (FTH1)	NP_002023.2:n.*197del
NM_002032.3:c.*197del (FTH1) MANE Select	NP_002023.2:n.*197del
NM_001139443.2:c.*1383del (BEST1)	NP_001132915.1:n.*1383del
NM_001363591.2:c.*1383del (BEST1)	NP_001350520.1:n.*1383del
NM_001363593.2:c.*1383del (BEST1)	NP_001350522.1:n.*1383del