Canonical Allele Identifier: CA916101769

Gene: CAMTA1

Linked Data

• dbSNP Id: rs1553238861
• gnomAD v3: 1-7663300-G-GTGCACATGTGTGCC
• gnomAD v4: 1-7663300-G-GTGCACATGTGTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7663304_7663317dup , CM000663.2:g.7663304_7663317dup	GRCh38
NC_000001.10:g.7723364_7723377dup , CM000663.1:g.7723364_7723377dup	GRCh37
NC_000001.9:g.7645951_7645964dup	NCBI36
NG_053148.1:g.882981_882994dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000476864.2:c.806-49_806-36dup	ENSP00000452319.2:n.806-49_806-36dup
ENST00000700414.1:c.*657-49_*657-36dup	ENSP00000514978.1:n.*657-49_*657-36dup
ENST00000700415.1:c.716-49_716-36dup	ENSP00000514979.1:n.716-49_716-36dup
ENST00000700417.1:c.734-49_734-36dup	ENSP00000514981.1:n.734-49_734-36dup
ENST00000700444.1:c.*575-49_*575-36dup	ENSP00000514992.1:n.*575-49_*575-36dup
ENST00000303635.12:c.806-49_806-36dup MANE Select	ENSP00000306522.6:n.806-49_806-36dup
ENST00000303635.11:c.806-49_806-36dup	ENSP00000306522.6:n.806-49_806-36dup
NM_015215.3:c.806-49_806-36dup	NP_056030.1:n.806-49_806-36dup
XM_011541083.1:c.806-49_806-36dup	XP_011539385.1:n.806-49_806-36dup
XM_011541084.1:c.806-49_806-36dup	XP_011539386.1:n.806-49_806-36dup
XM_011541085.1:c.794-49_794-36dup	XP_011539387.1:n.794-49_794-36dup
XM_011541086.1:c.806-49_806-36dup	XP_011539388.1:n.806-49_806-36dup
XM_011541087.1:c.734-49_734-36dup	XP_011539389.1:n.734-49_734-36dup
XM_011541088.1:c.716-49_716-36dup	XP_011539390.1:n.716-49_716-36dup
XM_011541089.1:c.806-49_806-36dup	XP_011539391.1:n.806-49_806-36dup
XM_011541090.1:c.806-49_806-36dup	XP_011539392.1:n.806-49_806-36dup
XM_011541091.1:c.806-49_806-36dup	XP_011539393.1:n.806-49_806-36dup
XM_011541092.1:c.806-49_806-36dup	XP_011539394.1:n.806-49_806-36dup
NM_001349608.1:c.716-49_716-36dup	NP_001336537.1:n.716-49_716-36dup
NM_001349609.1:c.806-49_806-36dup	NP_001336538.1:n.806-49_806-36dup
NM_001349610.1:c.806-49_806-36dup	NP_001336539.1:n.806-49_806-36dup
NM_001349612.1:c.716-49_716-36dup	NP_001336541.1:n.716-49_716-36dup
XM_011541083.2:c.806-49_806-36dup	XP_011539385.1:n.806-49_806-36dup
XM_011541084.2:c.806-49_806-36dup	XP_011539386.1:n.806-49_806-36dup
XM_011541086.3:c.806-49_806-36dup	XP_011539388.1:n.806-49_806-36dup
XM_011541087.2:c.734-49_734-36dup	XP_011539389.1:n.734-49_734-36dup
XM_011541088.2:c.716-49_716-36dup	XP_011539390.1:n.716-49_716-36dup
XM_011541090.3:c.806-49_806-36dup	XP_011539392.1:n.806-49_806-36dup
XM_011541091.2:c.806-49_806-36dup	XP_011539393.1:n.806-49_806-36dup
XM_011541092.3:c.806-49_806-36dup	XP_011539394.1:n.806-49_806-36dup
XM_017000774.2:c.806-49_806-36dup	XP_016856263.1:n.806-49_806-36dup
XM_017000777.1:c.806-49_806-36dup	XP_016856266.1:n.806-49_806-36dup
XM_017000778.1:c.806-49_806-36dup	XP_016856267.1:n.806-49_806-36dup
NM_015215.4:c.806-49_806-36dup MANE Select	NP_056030.1:n.806-49_806-36dup
NM_001349608.2:c.716-49_716-36dup	NP_001336537.1:n.716-49_716-36dup
NM_001349609.2:c.806-49_806-36dup	NP_001336538.1:n.806-49_806-36dup
NM_001349610.2:c.806-49_806-36dup	NP_001336539.1:n.806-49_806-36dup
NM_001349612.2:c.716-49_716-36dup	NP_001336541.1:n.716-49_716-36dup