Canonical Allele Identifier: CA521019648

Gene: CAMTA1

Linked Data

• dbSNP Id: rs1450257944
• gnomAD v2: 1-7724421-G-GCC
• MyVariant Identifiers: chr1:g.7724421_7724422insCC (hg19) ; chr1:g.7664361_7664362insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7664365_7664366dup , CM000663.2:g.7664365_7664366dup	GRCh38
NC_000001.10:g.7724425_7724426dup , CM000663.1:g.7724425_7724426dup	GRCh37
NC_000001.9:g.7647012_7647013dup	NCBI36
NG_053148.1:g.884042_884043dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476864.2:c.1818_1819dup	ENSP00000452319.2:p.His607ProfsTer30
ENST00000700414.1:c.*1669_*1670dup	ENSP00000514978.1:n.*1669_*1670dup
ENST00000700415.1:c.1728_1729dup	ENSP00000514979.1:p.His577ProfsTer30
ENST00000700417.1:c.1746_1747dup	ENSP00000514981.1:p.His583ProfsTer30
ENST00000700419.1:c.81_82dup	ENSP00000514983.1:p.His28ProfsTer30
ENST00000700444.1:c.*1587_*1588dup	ENSP00000514992.1:n.*1587_*1588dup
ENST00000303635.12:c.1818_1819dup MANE Select	ENSP00000306522.6:p.His607ProfsTer30
ENST00000303635.11:c.1818_1819dup	ENSP00000306522.6:p.His607ProfsTer30
NM_015215.3:c.1818_1819dup	NP_056030.1:p.His607ProfsTer30
XM_011541083.1:c.1818_1819dup	XP_011539385.1:p.His607ProfsTer30
XM_011541084.1:c.1818_1819dup	XP_011539386.1:p.His607ProfsTer30
XM_011541085.1:c.1806_1807dup	XP_011539387.1:p.His603ProfsTer30
XM_011541086.1:c.1818_1819dup	XP_011539388.1:p.His607ProfsTer30
XM_011541087.1:c.1746_1747dup	XP_011539389.1:p.His583ProfsTer30
XM_011541088.1:c.1728_1729dup	XP_011539390.1:p.His577ProfsTer30
XM_011541089.1:c.1818_1819dup	XP_011539391.1:p.His607ProfsTer30
XM_011541090.1:c.1818_1819dup	XP_011539392.1:p.His607ProfsTer30
XM_011541091.1:c.1818_1819dup	XP_011539393.1:p.His607ProfsTer30
XM_011541092.1:c.1818_1819dup	XP_011539394.1:p.His607ProfsTer30
NM_001349608.1:c.1728_1729dup	NP_001336537.1:p.His577ProfsTer30
NM_001349609.1:c.1818_1819dup	NP_001336538.1:p.His607ProfsTer30
NM_001349610.1:c.1818_1819dup	NP_001336539.1:p.His607ProfsTer30
NM_001349612.1:c.1728_1729dup	NP_001336541.1:p.His577ProfsTer30
XM_011541083.2:c.1818_1819dup	XP_011539385.1:p.His607ProfsTer30
XM_011541084.2:c.1818_1819dup	XP_011539386.1:p.His607ProfsTer30
XM_011541086.3:c.1818_1819dup	XP_011539388.1:p.His607ProfsTer30
XM_011541087.2:c.1746_1747dup	XP_011539389.1:p.His583ProfsTer30
XM_011541088.2:c.1728_1729dup	XP_011539390.1:p.His577ProfsTer30
XM_011541090.3:c.1818_1819dup	XP_011539392.1:p.His607ProfsTer30
XM_011541091.2:c.1818_1819dup	XP_011539393.1:p.His607ProfsTer30
XM_011541092.3:c.1818_1819dup	XP_011539394.1:p.His607ProfsTer30
XM_017000774.2:c.1818_1819dup	XP_016856263.1:p.His607ProfsTer30
XM_017000777.1:c.1818_1819dup	XP_016856266.1:p.His607ProfsTer30
XM_017000778.1:c.1818_1819dup	XP_016856267.1:p.His607ProfsTer30
NM_015215.4:c.1818_1819dup MANE Select	NP_056030.1:p.His607ProfsTer30
NM_001349608.2:c.1728_1729dup	NP_001336537.1:p.His577ProfsTer30
NM_001349609.2:c.1818_1819dup	NP_001336538.1:p.His607ProfsTer30
NM_001349610.2:c.1818_1819dup	NP_001336539.1:p.His607ProfsTer30
NM_001349612.2:c.1728_1729dup	NP_001336541.1:p.His577ProfsTer30