Canonical Allele Identifier: CA875843492

Gene: ARAF

Linked Data

• dbSNP Id: rs1156986983
• gnomAD v3: X-47566713-GCTCCACGTCCACTCC-G
• gnomAD v4: X-47566713-GCTCCACGTCCACTCC-G
• MyVariant Identifiers: chrX:g.47426113_47426127del (hg19) ; chrX:g.47566714_47566728del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47566715_47566729del , CM000685.2:g.47566715_47566729del	GRCh38
NC_000023.10:g.47426114_47426128del , CM000685.1:g.47426114_47426128del	GRCh37
NC_000023.9:g.47311058_47311072del	NCBI36
NG_016339.1:g.10599_10613del
NG_016339.2:g.10599_10613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377045.9:c.634_648del MANE Select	ENSP00000366244.4:p.Ser212_Pro216del
ENST00000290277.10:c.643_657del	ENSP00000290277.7:p.Ser215_Pro219del
ENST00000377045.8:c.634_648del	ENSP00000366244.4:p.Ser212_Pro216del
NM_001256196.1:c.643_657del	NP_001243125.1:p.Ser215_Pro219del
NM_001654.4:c.634_648del	NP_001645.1:p.Ser212_Pro216del
XM_006724529.1:c.649_663del	XP_006724592.1:p.Ser217_Pro221del
XM_011543906.1:c.649_663del	XP_011542208.1:p.Ser217_Pro221del
XM_011543907.1:c.649_663del	XP_011542209.1:p.Ser217_Pro221del
XM_011543908.1:c.634_648del	XP_011542210.1:p.Ser212_Pro216del
XM_011543909.1:c.-24_-10del	XP_011542211.1:n.-24_-10del
XM_006724529.3:c.649_663del	XP_006724592.1:p.Ser217_Pro221del
XM_011543906.3:c.649_663del	XP_011542208.1:p.Ser217_Pro221del
XM_011543908.3:c.634_648del	XP_011542210.1:p.Ser212_Pro216del
XM_011543909.3:c.-24_-10del	XP_011542211.1:n.-24_-10del
NM_001654.5:c.634_648del MANE Select	NP_001645.1:p.Ser212_Pro216del
NM_001256196.2:c.643_657del	NP_001243125.1:p.Ser215_Pro219del