Canonical Allele Identifier: CA566300

Gene: CAMTA1

Linked Data

• ClinVar Variation Id: 235450
• ClinVar RCV Id: RCV000224489
• dbSNP Id: rs200318010
• ExAC: 1:7723406 TC / T
• gnomAD v2: 1-7723406-TC-T
• gnomAD v3: 1-7663346-TC-T
• gnomAD v4: 1-7663346-TC-T
• MyVariant Identifiers: chr1:g.7723407del (hg19) ; chr1:g.7663348del (hg38) ; chr1:g.7663347del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7663348del , CM000663.2:g.7663348del	GRCh38
NC_000001.10:g.7723408del , CM000663.1:g.7723408del	GRCh37
NC_000001.9:g.7645995del	NCBI36
NG_053148.1:g.883025del

Transcript Alleles

HGVS	Amino-acid change
ENST00000476864.2:c.806-5del	ENSP00000452319.2:n.806-5del
ENST00000700414.1:c.*657-5del	ENSP00000514978.1:n.*657-5del
ENST00000700415.1:c.716-5del	ENSP00000514979.1:n.716-5del
ENST00000700417.1:c.734-5del	ENSP00000514981.1:n.734-5del
ENST00000700444.1:c.*575-5del	ENSP00000514992.1:n.*575-5del
ENST00000303635.12:c.806-5del MANE Select	ENSP00000306522.6:n.806-5del
ENST00000303635.11:c.806-5del	ENSP00000306522.6:n.806-5del
NM_015215.3:c.806-5del	NP_056030.1:n.806-5del
XM_011541083.1:c.806-5del	XP_011539385.1:n.806-5del
XM_011541084.1:c.806-5del	XP_011539386.1:n.806-5del
XM_011541085.1:c.794-5del	XP_011539387.1:n.794-5del
XM_011541086.1:c.806-5del	XP_011539388.1:n.806-5del
XM_011541087.1:c.734-5del	XP_011539389.1:n.734-5del
XM_011541088.1:c.716-5del	XP_011539390.1:n.716-5del
XM_011541089.1:c.806-5del	XP_011539391.1:n.806-5del
XM_011541090.1:c.806-5del	XP_011539392.1:n.806-5del
XM_011541091.1:c.806-5del	XP_011539393.1:n.806-5del
XM_011541092.1:c.806-5del	XP_011539394.1:n.806-5del
NM_001349608.1:c.716-5del	NP_001336537.1:n.716-5del
NM_001349609.1:c.806-5del	NP_001336538.1:n.806-5del
NM_001349610.1:c.806-5del	NP_001336539.1:n.806-5del
NM_001349612.1:c.716-5del	NP_001336541.1:n.716-5del
XM_011541083.2:c.806-5del	XP_011539385.1:n.806-5del
XM_011541084.2:c.806-5del	XP_011539386.1:n.806-5del
XM_011541086.3:c.806-5del	XP_011539388.1:n.806-5del
XM_011541087.2:c.734-5del	XP_011539389.1:n.734-5del
XM_011541088.2:c.716-5del	XP_011539390.1:n.716-5del
XM_011541090.3:c.806-5del	XP_011539392.1:n.806-5del
XM_011541091.2:c.806-5del	XP_011539393.1:n.806-5del
XM_011541092.3:c.806-5del	XP_011539394.1:n.806-5del
XM_017000774.2:c.806-5del	XP_016856263.1:n.806-5del
XM_017000777.1:c.806-5del	XP_016856266.1:n.806-5del
XM_017000778.1:c.806-5del	XP_016856267.1:n.806-5del
NM_015215.4:c.806-5del MANE Select	NP_056030.1:n.806-5del
NM_001349608.2:c.716-5del	NP_001336537.1:n.716-5del
NM_001349609.2:c.806-5del	NP_001336538.1:n.806-5del
NM_001349610.2:c.806-5del	NP_001336539.1:n.806-5del
NM_001349612.2:c.716-5del	NP_001336541.1:n.716-5del