Canonical Allele Identifier: CA658797257

Gene: ANKS6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98780256del , CM000671.2:g.98780256del	GRCh38
NC_000009.11:g.101542538del , CM000671.1:g.101542538del	GRCh37
NC_000009.10:g.100582359del	NCBI36
NG_042237.1:g.21287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353234.5:c.1301del MANE Select	ENSP00000297837.6:p.Leu434ArgfsTer22
ENST00000353234.4:c.1301del	ENSP00000297837.6:p.Leu434ArgfsTer22
ENST00000375019.6:c.398del	ENSP00000364159.2:p.Leu133ArgfsTer22
ENST00000634393.1:n.401del
NM_173551.3:c.1301del	NP_775822.3:p.Leu434ArgfsTer22
NM_173551.4:c.1301del	NP_775822.3:p.Leu434ArgfsTer22
XM_005251793.3:c.1301del	XP_005251850.1:p.Leu434ArgfsTer22
XM_005251794.3:c.1301del	XP_005251851.1:p.Leu434ArgfsTer22
XM_006716998.2:c.1301del	XP_006717061.1:p.Leu434ArgfsTer22
XM_006716999.2:c.1127del	XP_006717062.1:p.Leu376ArgfsTer22
XM_011518356.1:c.1301del	XP_011516658.1:p.Leu434ArgfsTer22
XM_011518357.1:c.311del	XP_011516659.1:p.Leu104ArgfsTer22
XR_242576.3:n.1339del
XR_428520.2:n.1340del
XR_929736.1:n.1340del
XR_929737.1:n.406del
XM_005251793.4:c.1301del	XP_005251850.1:p.Leu434ArgfsTer22
XM_005251794.4:c.1301del	XP_005251851.1:p.Leu434ArgfsTer22
XM_006716998.3:c.1301del	XP_006717061.1:p.Leu434ArgfsTer22
XM_006716999.3:c.1127del	XP_006717062.1:p.Leu376ArgfsTer22
XM_017014445.1:c.1301del	XP_016869934.1:p.Leu434ArgfsTer22
XM_017014447.1:c.50del	XP_016869936.1:p.Leu17ArgfsTer22
XM_024447445.1:c.1019del	XP_024303213.1:p.Leu340ArgfsTer22
XM_024447447.1:c.716del	XP_024303215.1:p.Leu239ArgfsTer22
XR_001746230.1:n.406del
XR_428520.3:n.1339del
XR_929736.2:n.1339del
NM_173551.5:c.1301del MANE Select	NP_775822.3:p.Leu434ArgfsTer22