Canonical Allele Identifier: CA16620301

Gene: ANKRD11

Linked Data

• ClinVar Variation Id: 422344
• ClinVar RCV Id: RCV000482521
• dbSNP Id: rs1555521779
• MyVariant Identifiers: chr16:g.89337227_89337243del (hg19) ; chr16:g.89270819_89270835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89270823_89270839del , CM000678.2:g.89270823_89270839del	GRCh38
NC_000016.9:g.89337231_89337247del , CM000678.1:g.89337231_89337247del	GRCh37
NC_000016.8:g.87864732_87864748del	NCBI36
NG_032003.1:g.224727_224743del
NG_032003.2:g.224727_224743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301030.10:c.7788_7804del MANE Select	ENSP00000301030.4:p.Asp2596GlufsTer?
ENST00000330736.10:c.*7591_*7607del	ENSP00000330815.5:n.*7591_*7607del
ENST00000378330.7:c.7788_7804del	ENSP00000367581.2:p.Asp2596GlufsTer?
ENST00000642600.1:c.7788_7804del	ENSP00000495226.1:p.Asp2596GlufsTer?
ENST00000644285.1:c.1062_1078del	ENSP00000496476.1:p.Asp354GlufsTer?
ENST00000301030.8:c.7788_7804del	ENSP00000301030.4:p.Asp2596GlufsTer?
ENST00000330736.9:c.*7591_*7607del	ENSP00000330815.5:n.*7591_*7607del
ENST00000378330.6:c.7788_7804del	ENSP00000367581.2:p.Asp2596GlufsTer?
ENST00000562194.1:c.469_485del
NM_001256182.1:c.7788_7804del	NP_001243111.1:p.Asp2596GlufsTer?
NM_001256183.1:c.7788_7804del	NP_001243112.1:p.Asp2596GlufsTer?
NM_013275.5:c.7788_7804del	NP_037407.4:p.Asp2596GlufsTer?
XM_006721181.1:c.7686_7702del	XP_006721244.1:p.Asp2562GlufsTer?
XM_006721184.2:c.7491_7507del	XP_006721247.1:p.Asp2497GlufsTer?
XM_011523051.1:c.7788_7804del	XP_011521353.1:p.Asp2596GlufsTer?
XM_011523052.1:c.7788_7804del	XP_011521354.1:p.Asp2596GlufsTer?
XM_011523053.1:c.7788_7804del	XP_011521355.1:p.Asp2596GlufsTer?
XM_011523054.1:c.7686_7702del	XP_011521356.1:p.Asp2562GlufsTer?
XM_011523055.1:c.7686_7702del	XP_011521357.1:p.Asp2562GlufsTer?
XM_011523056.1:c.7659_7675del	XP_011521358.1:p.Asp2553GlufsTer?
XM_011523057.1:c.7788_7804del	XP_011521359.1:p.Asp2596GlufsTer25
XM_011523051.3:c.7788_7804del	XP_011521353.1:p.Asp2596GlufsTer?
XM_011523053.2:c.7788_7804del	XP_011521355.1:p.Asp2596GlufsTer?
XM_011523054.2:c.7686_7702del	XP_011521356.1:p.Asp2562GlufsTer?
XM_011523055.2:c.7686_7702del	XP_011521357.1:p.Asp2562GlufsTer?
XM_011523056.2:c.7659_7675del	XP_011521358.1:p.Asp2553GlufsTer?
XM_011523057.2:c.7788_7804del	XP_011521359.1:p.Asp2596GlufsTer25
XM_017023182.2:c.7788_7804del	XP_016878671.1:p.Asp2596GlufsTer?
XM_017023183.1:c.7788_7804del	XP_016878672.1:p.Asp2596GlufsTer?
XM_017023184.1:c.7788_7804del	XP_016878673.1:p.Asp2596GlufsTer?
XM_017023185.1:c.7788_7804del	XP_016878674.1:p.Asp2596GlufsTer?
XM_017023186.1:c.7788_7804del	XP_016878675.1:p.Asp2596GlufsTer?
XM_017023187.1:c.7788_7804del	XP_016878676.1:p.Asp2596GlufsTer?
XM_024450244.1:c.7686_7702del	XP_024306012.1:p.Asp2562GlufsTer?
NM_013275.6:c.7788_7804del MANE Select	NP_037407.4:p.Asp2596GlufsTer?
NM_001256182.2:c.7788_7804del	NP_001243111.1:p.Asp2596GlufsTer?
NM_001256183.2:c.7788_7804del	NP_001243112.1:p.Asp2596GlufsTer?