Canonical Allele Identifier: CA2660687176

Gene: MERTK

Linked Data

• gnomAD v4: 2-111947536-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947537dup , CM000664.2:g.111947537dup	GRCh38
NC_000002.11:g.112705114dup , CM000664.1:g.112705114dup	GRCh37
NC_000002.10:g.112421585dup	NCBI36
NG_011607.1:g.53924dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.727dup MANE Select	ENSP00000295408.4:p.Glu243GlyfsTer21
ENST00000295408.8:c.727dup	ENSP00000295408.4:p.Glu243GlyfsTer21
ENST00000409780.5:c.199dup	ENSP00000387277.1:p.Glu67GlyfsTer21
ENST00000421804.6:c.727dup	ENSP00000389152.2:p.Glu243GlyfsTer21
ENST00000439966.5:c.*200dup	ENSP00000402129.1:n.*200dup
ENST00000616902.4:c.-489dup	ENSP00000482824.1:n.-489dup
NM_006343.2:c.727dup	NP_006334.2:p.Glu243GlyfsTer21
XM_005263565.3:c.727dup	XP_005263622.1:p.Glu243GlyfsTer21
XM_005263568.3:c.727dup	XP_005263625.1:p.Glu243GlyfsTer21
XM_011510490.1:c.538dup	XP_011508792.1:p.Glu180GlyfsTer21
XM_005263565.4:c.727dup	XP_005263622.1:p.Glu243GlyfsTer21
XM_005263568.4:c.727dup	XP_005263625.1:p.Glu243GlyfsTer21
XM_011510490.3:c.538dup	XP_011508792.1:p.Glu180GlyfsTer21
XM_017003164.1:c.538dup	XP_016858653.1:p.Glu180GlyfsTer21
XM_017003165.2:c.-541dup	XP_016858654.1:n.-541dup
NM_006343.3:c.727dup MANE Select	NP_006334.2:p.Glu243GlyfsTer21