Canonical Allele Identifier: CA16617188
Gene: CAMTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421507
ClinVar RCV Id: RCV000485317
dbSNP Id: rs1064795180

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7663429_7663430insCG , CM000663.2:g.7663429_7663430insCG GRCh38
NC_000001.10:g.7723489_7723490insCG , CM000663.1:g.7723489_7723490insCG GRCh37
NC_000001.9:g.7646076_7646077insCG NCBI36
NG_053148.1:g.883106_883107insCG

Transcript Alleles

HGVS Amino-acid change
ENST00000476864.2:c.882_883insCG ENSP00000452319.2:p.Gly295ArgfsTer?
ENST00000700414.1:c.*733_*734insCG ENSP00000514978.1:n.*733_*734insCG
ENST00000700415.1:c.792_793insCG ENSP00000514979.1:p.Gly265ArgfsTer?
ENST00000700417.1:c.810_811insCG ENSP00000514981.1:p.Gly271ArgfsTer?
ENST00000700444.1:c.*651_*652insCG ENSP00000514992.1:n.*651_*652insCG
ENST00000303635.12:c.882_883insCG MANE Select ENSP00000306522.6:p.Gly295ArgfsTer?
ENST00000303635.11:c.882_883insCG ENSP00000306522.6:p.Gly295ArgfsTer?
NM_015215.3:c.882_883insCG NP_056030.1:p.Gly295ArgfsTer?
XM_011541083.1:c.882_883insCG XP_011539385.1:p.Gly295ArgfsTer?
XM_011541084.1:c.882_883insCG XP_011539386.1:p.Gly295ArgfsTer?
XM_011541085.1:c.870_871insCG XP_011539387.1:p.Gly291ArgfsTer?
XM_011541086.1:c.882_883insCG XP_011539388.1:p.Gly295ArgfsTer?
XM_011541087.1:c.810_811insCG XP_011539389.1:p.Gly271ArgfsTer?
XM_011541088.1:c.792_793insCG XP_011539390.1:p.Gly265ArgfsTer?
XM_011541089.1:c.882_883insCG XP_011539391.1:p.Gly295ArgfsTer?
XM_011541090.1:c.882_883insCG XP_011539392.1:p.Gly295ArgfsTer?
XM_011541091.1:c.882_883insCG XP_011539393.1:p.Gly295ArgfsTer?
XM_011541092.1:c.882_883insCG XP_011539394.1:p.Gly295ArgfsTer?
NM_001349608.1:c.792_793insCG NP_001336537.1:p.Gly265ArgfsTer?
NM_001349609.1:c.882_883insCG NP_001336538.1:p.Gly295ArgfsTer?
NM_001349610.1:c.882_883insCG NP_001336539.1:p.Gly295ArgfsTer?
NM_001349612.1:c.792_793insCG NP_001336541.1:p.Gly265ArgfsTer?
XM_011541083.2:c.882_883insCG XP_011539385.1:p.Gly295ArgfsTer?
XM_011541084.2:c.882_883insCG XP_011539386.1:p.Gly295ArgfsTer?
XM_011541086.3:c.882_883insCG XP_011539388.1:p.Gly295ArgfsTer?
XM_011541087.2:c.810_811insCG XP_011539389.1:p.Gly271ArgfsTer?
XM_011541088.2:c.792_793insCG XP_011539390.1:p.Gly265ArgfsTer?
XM_011541090.3:c.882_883insCG XP_011539392.1:p.Gly295ArgfsTer?
XM_011541091.2:c.882_883insCG XP_011539393.1:p.Gly295ArgfsTer?
XM_011541092.3:c.882_883insCG XP_011539394.1:p.Gly295ArgfsTer?
XM_017000774.2:c.882_883insCG XP_016856263.1:p.Gly295ArgfsTer?
XM_017000777.1:c.882_883insCG XP_016856266.1:p.Gly295ArgfsTer?
XM_017000778.1:c.882_883insCG XP_016856267.1:p.Gly295ArgfsTer?
NM_015215.4:c.882_883insCG MANE Select NP_056030.1:p.Gly295ArgfsTer?
NM_001349608.2:c.792_793insCG NP_001336537.1:p.Gly265ArgfsTer?
NM_001349609.2:c.882_883insCG NP_001336538.1:p.Gly295ArgfsTer?
NM_001349610.2:c.882_883insCG NP_001336539.1:p.Gly295ArgfsTer?
NM_001349612.2:c.792_793insCG NP_001336541.1:p.Gly265ArgfsTer?