Canonical Allele Identifier: CA951027177

Gene: ANKS1B

Linked Data

• dbSNP Id: rs2092419499
• gnomAD v3: 12-99880607-AGTTGT-A
• gnomAD v4: 12-99880607-AGTTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.99880610_99880614del , CM000674.2:g.99880610_99880614del	GRCh38
NC_000012.11:g.100274388_100274392del , CM000674.1:g.100274388_100274392del	GRCh37
NC_000012.10:g.98798519_98798523del	NCBI36
NG_029860.1:g.109043_109047del
NG_029860.2:g.109043_109047del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683438.2:c.135-55223_135-55219del MANE Select	ENSP00000508105.1:n.135-55223_135-55219de...
ENST00000547010.5:c.-133+103492_-133+103496del	ENSP00000448512.1:n.-133+103492_-133+1034...
ENST00000547776.6:c.135-55223_135-55219del	ENSP00000449629.2:n.135-55223_135-55219de...
ENST00000549866.5:c.135-55223_135-55219del	ENSP00000449894.1:n.135-55223_135-55219de...
NM_152788.4:c.135-55223_135-55219del	NP_690001.3:n.135-55223_135-55219del
XM_005269028.3:c.135-55223_135-55219del	XP_005269085.1:n.135-55223_135-55219del
XM_005269029.3:c.135-55223_135-55219del	XP_005269086.1:n.135-55223_135-55219del
XM_006719504.2:c.135-55223_135-55219del	XP_006719567.1:n.135-55223_135-55219del
XM_006719505.2:c.135-55223_135-55219del	XP_006719568.1:n.135-55223_135-55219del
XM_006719506.2:c.135-55223_135-55219del	XP_006719569.1:n.135-55223_135-55219del
XM_006719507.2:c.135-55223_135-55219del	XP_006719570.1:n.135-55223_135-55219del
XM_006719508.2:c.135-55223_135-55219del	XP_006719571.1:n.135-55223_135-55219del
XM_006719509.2:c.135-55223_135-55219del	XP_006719572.1:n.135-55223_135-55219del
XM_006719510.2:c.135-55223_135-55219del	XP_006719573.1:n.135-55223_135-55219del
XM_006719511.2:c.135-55223_135-55219del	XP_006719574.1:n.135-55223_135-55219del
XM_006719512.2:c.135-55223_135-55219del	XP_006719575.1:n.135-55223_135-55219del
XM_006719513.2:c.135-55223_135-55219del	XP_006719576.1:n.135-55223_135-55219del
XM_006719514.2:c.135-55223_135-55219del	XP_006719577.1:n.135-55223_135-55219del
XM_011538570.1:c.135-55223_135-55219del	XP_011536872.1:n.135-55223_135-55219del
XM_011538571.1:c.135-55223_135-55219del	XP_011536873.1:n.135-55223_135-55219del
XM_011538572.1:c.135-55223_135-55219del	XP_011536874.1:n.135-55223_135-55219del
XR_944628.1:n.625-55223_625-55219del
XR_944629.1:n.625-55223_625-55219del
NM_001352185.1:c.135-55223_135-55219del	NP_001339114.1:n.135-55223_135-55219del
NM_001352186.1:c.135-55223_135-55219del	NP_001339115.1:n.135-55223_135-55219del
NM_001352187.1:c.135-55223_135-55219del	NP_001339116.1:n.135-55223_135-55219del
NM_001352188.1:c.135-55223_135-55219del	NP_001339117.1:n.135-55223_135-55219del
XM_005269029.5:c.135-55223_135-55219del	XP_005269086.1:n.135-55223_135-55219del
XM_006719504.4:c.135-55223_135-55219del	XP_006719567.1:n.135-55223_135-55219del
XM_006719505.4:c.135-55223_135-55219del	XP_006719568.1:n.135-55223_135-55219del
XM_006719507.4:c.135-55223_135-55219del	XP_006719570.1:n.135-55223_135-55219del
XM_006719508.4:c.135-55223_135-55219del	XP_006719571.1:n.135-55223_135-55219del
XM_006719510.4:c.135-55223_135-55219del	XP_006719573.1:n.135-55223_135-55219del
XM_006719512.4:c.135-55223_135-55219del	XP_006719575.1:n.135-55223_135-55219del
XM_006719513.4:c.135-55223_135-55219del	XP_006719576.1:n.135-55223_135-55219del
XM_006719514.4:c.135-55223_135-55219del	XP_006719577.1:n.135-55223_135-55219del
XM_011538571.3:c.135-55223_135-55219del	XP_011536873.1:n.135-55223_135-55219del
XM_017019652.2:c.135-55223_135-55219del	XP_016875141.1:n.135-55223_135-55219del
XM_017019653.2:c.135-55223_135-55219del	XP_016875142.1:n.135-55223_135-55219del
XM_017019654.2:c.135-55223_135-55219del	XP_016875143.1:n.135-55223_135-55219del
XM_017019655.2:c.135-55223_135-55219del	XP_016875144.1:n.135-55223_135-55219del
XM_017019656.2:c.135-55223_135-55219del	XP_016875145.1:n.135-55223_135-55219del
XM_017019657.2:c.135-55223_135-55219del	XP_016875146.1:n.135-55223_135-55219del
XM_017019658.2:c.135-55223_135-55219del	XP_016875147.1:n.135-55223_135-55219del
XM_024449062.1:c.-1222-55223_-1222-55219del	XP_024304830.1:n.-1222-55223_-1222-55219d...
XR_001748815.2:n.671-55223_671-55219del
NM_001352186.2:c.135-55223_135-55219del MANE Select	NP_001339115.1:n.135-55223_135-55219del