Canonical Allele Identifier: CA2582342927

Gene: AMOT

Linked Data

• ClinVar Variation Id: 2584598
• ClinVar RCV Id: RCV003336038

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.112779110_112779111delinsA , CM000685.2:g.112779110_112779111delinsA	GRCh38
NC_000023.10:g.112022338_112022339delinsA , CM000685.1:g.112022338_112022339delinsA	GRCh37
NC_000023.9:g.111908994_111908995delinsA	NCBI36
NG_012628.1:g.66705_66706delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371959.9:c.3043_3044delinsT MANE Select	ENSP00000361027.3:p.Ala1015PhefsTer?
ENST00000371959.8:c.3043_3044delinsT	ENSP00000361027.3:p.Ala1015PhefsTer?
ENST00000304758.5:c.1816_1817delinsT	ENSP00000305557.1:p.Ala606PhefsTer?
ENST00000371959.7:c.3043_3044delinsT	ENSP00000361027.3:p.Ala1015PhefsTer?
ENST00000371962.5:c.2347_2348delinsT	ENSP00000361030.1:p.Ala783PhefsTer?
ENST00000524145.5:c.3043_3044delinsT	ENSP00000429013.1:p.Ala1015PhefsTer?
NM_001113490.1:c.3043_3044delinsT	NP_001106962.1:p.Ala1015PhefsTer?
NM_133265.2:c.1816_1817delinsT	NP_573572.1:p.Ala606PhefsTer?
XM_005262087.1:c.3043_3044delinsT	XP_005262144.1:p.Ala1015PhefsTer?
XM_005262088.2:c.3043_3044delinsT	XP_005262145.1:p.Ala1015PhefsTer?
XM_005262090.1:c.1816_1817delinsT	XP_005262147.1:p.Ala606PhefsTer?
XM_011530875.1:c.3043_3044delinsT	XP_011529177.1:p.Ala1015PhefsTer?
XM_011530875.2:c.3043_3044delinsT	XP_011529177.1:p.Ala1015PhefsTer?
XM_017029289.1:c.1816_1817delinsT	XP_016884778.1:p.Ala606PhefsTer?
NM_133265.3:c.1816_1817delinsT	NP_573572.1:p.Ala606PhefsTer?
NM_001113490.2:c.3043_3044delinsT MANE Select	NP_001106962.1:p.Ala1015PhefsTer?
NM_001386998.1:c.3043_3044delinsT	NP_001373927.1:p.Ala1015PhefsTer?
NM_001386999.1:c.3043_3044delinsT	NP_001373928.1:p.Ala1015PhefsTer?
NM_133265.5:c.1816_1817delinsT	NP_573572.1:p.Ala606PhefsTer?