Canonical Allele Identifier: CA2660689213

Gene: MERTK

Linked Data

• gnomAD v4: 2-111997347-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997349dup , CM000664.2:g.111997349dup	GRCh38
NC_000002.11:g.112754926dup , CM000664.1:g.112754926dup	GRCh37
NC_000002.10:g.112471397dup	NCBI36
NG_011607.1:g.103736dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1477dup MANE Select	ENSP00000295408.4:p.Thr493AsnfsTer?
ENST00000295408.8:c.1477dup	ENSP00000295408.4:p.Thr493AsnfsTer?
ENST00000409780.5:c.949dup	ENSP00000387277.1:p.Thr317AsnfsTer?
ENST00000421804.6:c.1477dup	ENSP00000389152.2:p.Thr493AsnfsTer?
ENST00000439966.5:c.*950dup	ENSP00000402129.1:n.*950dup
ENST00000616902.4:c.446dup	ENSP00000482824.1:p.Asn149LysfsTer?
NM_006343.2:c.1477dup	NP_006334.2:p.Thr493AsnfsTer?
XM_005263565.3:c.1477dup	XP_005263622.1:p.Thr493AsnfsTer?
XM_005263568.3:c.1477dup	XP_005263625.1:p.Thr493AsnfsTer?
XM_011510490.1:c.1288dup	XP_011508792.1:p.Thr430AsnfsTer?
XM_011510491.1:c.262dup	XP_011508793.1:p.Thr88AsnfsTer?
XM_005263565.4:c.1477dup	XP_005263622.1:p.Thr493AsnfsTer?
XM_005263568.4:c.1477dup	XP_005263625.1:p.Thr493AsnfsTer?
XM_011510490.3:c.1288dup	XP_011508792.1:p.Thr430AsnfsTer?
XM_017003164.1:c.1288dup	XP_016858653.1:p.Thr430AsnfsTer?
XM_017003165.2:c.262dup	XP_016858654.1:p.Thr88AsnfsTer?
NM_006343.3:c.1477dup MANE Select	NP_006334.2:p.Thr493AsnfsTer?