Canonical Allele Identifier: CA1139655932

Gene: CAMTA1

Linked Data

• ClinVar Variation Id: 872691
• ClinVar RCV Id: RCV001093302
• dbSNP Id: rs2095981231
• gnomAD v4: 1-7663838-CTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7663841_7663843del , CM000663.2:g.7663841_7663843del	GRCh38
NC_000001.10:g.7723901_7723903del , CM000663.1:g.7723901_7723903del	GRCh37
NC_000001.9:g.7646488_7646490del	NCBI36
NG_053148.1:g.883518_883520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476864.2:c.1294_1296del	ENSP00000452319.2:p.Val432del
ENST00000700414.1:c.*1145_*1147del	ENSP00000514978.1:n.*1145_*1147del
ENST00000700415.1:c.1204_1206del	ENSP00000514979.1:p.Val402del
ENST00000700417.1:c.1222_1224del	ENSP00000514981.1:p.Val408del
ENST00000700444.1:c.*1063_*1065del	ENSP00000514992.1:n.*1063_*1065del
ENST00000303635.12:c.1294_1296del MANE Select	ENSP00000306522.6:p.Val432del
ENST00000303635.11:c.1294_1296del	ENSP00000306522.6:p.Val432del
NM_015215.3:c.1294_1296del	NP_056030.1:p.Val432del
XM_011541083.1:c.1294_1296del	XP_011539385.1:p.Val432del
XM_011541084.1:c.1294_1296del	XP_011539386.1:p.Val432del
XM_011541085.1:c.1282_1284del	XP_011539387.1:p.Val428del
XM_011541086.1:c.1294_1296del	XP_011539388.1:p.Val432del
XM_011541087.1:c.1222_1224del	XP_011539389.1:p.Val408del
XM_011541088.1:c.1204_1206del	XP_011539390.1:p.Val402del
XM_011541089.1:c.1294_1296del	XP_011539391.1:p.Val432del
XM_011541090.1:c.1294_1296del	XP_011539392.1:p.Val432del
XM_011541091.1:c.1294_1296del	XP_011539393.1:p.Val432del
XM_011541092.1:c.1294_1296del	XP_011539394.1:p.Val432del
NM_001349608.1:c.1204_1206del	NP_001336537.1:p.Val402del
NM_001349609.1:c.1294_1296del	NP_001336538.1:p.Val432del
NM_001349610.1:c.1294_1296del	NP_001336539.1:p.Val432del
NM_001349612.1:c.1204_1206del	NP_001336541.1:p.Val402del
XM_011541083.2:c.1294_1296del	XP_011539385.1:p.Val432del
XM_011541084.2:c.1294_1296del	XP_011539386.1:p.Val432del
XM_011541086.3:c.1294_1296del	XP_011539388.1:p.Val432del
XM_011541087.2:c.1222_1224del	XP_011539389.1:p.Val408del
XM_011541088.2:c.1204_1206del	XP_011539390.1:p.Val402del
XM_011541090.3:c.1294_1296del	XP_011539392.1:p.Val432del
XM_011541091.2:c.1294_1296del	XP_011539393.1:p.Val432del
XM_011541092.3:c.1294_1296del	XP_011539394.1:p.Val432del
XM_017000774.2:c.1294_1296del	XP_016856263.1:p.Val432del
XM_017000777.1:c.1294_1296del	XP_016856266.1:p.Val432del
XM_017000778.1:c.1294_1296del	XP_016856267.1:p.Val432del
NM_015215.4:c.1294_1296del MANE Select	NP_056030.1:p.Val432del
NM_001349608.2:c.1204_1206del	NP_001336537.1:p.Val402del
NM_001349609.2:c.1294_1296del	NP_001336538.1:p.Val432del
NM_001349610.2:c.1294_1296del	NP_001336539.1:p.Val432del
NM_001349612.2:c.1204_1206del	NP_001336541.1:p.Val402del