Canonical Allele Identifier: CA658790755

Gene: ANKRD11

Linked Data

• ClinVar Variation Id: 560941
• ClinVar RCV Id: RCV000679910
• dbSNP Id: rs1567571990
• MyVariant Identifiers: chr16:g.89282769_89282772del (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89282770_89282773del , CM000678.2:g.89282770_89282773del	GRCh38
NC_000016.9:g.89349178_89349181del , CM000678.1:g.89349178_89349181del	GRCh37
NC_000016.8:g.87876679_87876682del	NCBI36
NG_032003.1:g.212790_212793del
NG_032003.2:g.212790_212793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301030.10:c.3770_3773del MANE Select	ENSP00000301030.4:p.Lys1257ArgfsTer?
ENST00000330736.10:c.*3573_*3576del	ENSP00000330815.5:n.*3573_*3576del
ENST00000378330.7:c.3770_3773del	ENSP00000367581.2:p.Lys1257ArgfsTer?
ENST00000642600.1:c.3770_3773del	ENSP00000495226.1:p.Lys1257ArgfsTer?
ENST00000644285.1:c.744+5756_744+5759del	ENSP00000496476.1:n.744+5756_744+5759del
ENST00000301030.8:c.3770_3773del	ENSP00000301030.4:p.Lys1257ArgfsTer?
ENST00000330736.9:c.*3573_*3576del	ENSP00000330815.5:n.*3573_*3576del
ENST00000378330.6:c.3770_3773del	ENSP00000367581.2:p.Lys1257ArgfsTer?
ENST00000562194.1:c.151+5756_151+5759del
NM_001256182.1:c.3770_3773del	NP_001243111.1:p.Lys1257ArgfsTer?
NM_001256183.1:c.3770_3773del	NP_001243112.1:p.Lys1257ArgfsTer?
NM_013275.5:c.3770_3773del	NP_037407.4:p.Lys1257ArgfsTer?
XM_006721181.1:c.3668_3671del	XP_006721244.1:p.Lys1223ArgfsTer?
XM_006721184.2:c.3473_3476del	XP_006721247.1:p.Lys1158ArgfsTer?
XM_011523051.1:c.3770_3773del	XP_011521353.1:p.Lys1257ArgfsTer?
XM_011523052.1:c.3770_3773del	XP_011521354.1:p.Lys1257ArgfsTer?
XM_011523053.1:c.3770_3773del	XP_011521355.1:p.Lys1257ArgfsTer?
XM_011523054.1:c.3668_3671del	XP_011521356.1:p.Lys1223ArgfsTer?
XM_011523055.1:c.3668_3671del	XP_011521357.1:p.Lys1223ArgfsTer?
XM_011523056.1:c.3641_3644del	XP_011521358.1:p.Lys1214ArgfsTer?
XM_011523057.1:c.3770_3773del	XP_011521359.1:p.Lys1257ArgfsTer?
XM_011523051.3:c.3770_3773del	XP_011521353.1:p.Lys1257ArgfsTer?
XM_011523053.2:c.3770_3773del	XP_011521355.1:p.Lys1257ArgfsTer?
XM_011523054.2:c.3668_3671del	XP_011521356.1:p.Lys1223ArgfsTer?
XM_011523055.2:c.3668_3671del	XP_011521357.1:p.Lys1223ArgfsTer?
XM_011523056.2:c.3641_3644del	XP_011521358.1:p.Lys1214ArgfsTer?
XM_011523057.2:c.3770_3773del	XP_011521359.1:p.Lys1257ArgfsTer?
XM_017023182.2:c.3770_3773del	XP_016878671.1:p.Lys1257ArgfsTer?
XM_017023183.1:c.3770_3773del	XP_016878672.1:p.Lys1257ArgfsTer?
XM_017023184.1:c.3770_3773del	XP_016878673.1:p.Lys1257ArgfsTer?
XM_017023185.1:c.3770_3773del	XP_016878674.1:p.Lys1257ArgfsTer?
XM_017023186.1:c.3770_3773del	XP_016878675.1:p.Lys1257ArgfsTer?
XM_017023187.1:c.3770_3773del	XP_016878676.1:p.Lys1257ArgfsTer?
XM_024450244.1:c.3668_3671del	XP_024306012.1:p.Lys1223ArgfsTer?
NM_013275.6:c.3770_3773del MANE Select	NP_037407.4:p.Lys1257ArgfsTer?
NM_001256182.2:c.3770_3773del	NP_001243111.1:p.Lys1257ArgfsTer?
NM_001256183.2:c.3770_3773del	NP_001243112.1:p.Lys1257ArgfsTer?