Canonical Allele Identifier: CA2751717268

Gene: MERTK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947560_111947561insAC , CM000664.2:g.111947560_111947561insAC	GRCh38
NC_000002.11:g.112705137_112705138insAC , CM000664.1:g.112705137_112705138insAC	GRCh37
NC_000002.10:g.112421608_112421609insAC	NCBI36
NG_011607.1:g.53947_53948insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.750_751insAC MANE Select	ENSP00000295408.4:p.Val251ThrfsTer5
ENST00000295408.8:c.750_751insAC	ENSP00000295408.4:p.Val251ThrfsTer5
ENST00000409780.5:c.222_223insAC	ENSP00000387277.1:p.Val75ThrfsTer5
ENST00000421804.6:c.750_751insAC	ENSP00000389152.2:p.Val251ThrfsTer5
ENST00000439966.5:c.*223_*224insAC	ENSP00000402129.1:n.*223_*224insAC
ENST00000616902.4:c.-466_-465insAC	ENSP00000482824.1:n.-466_-465insAC
NM_006343.2:c.750_751insAC	NP_006334.2:p.Val251ThrfsTer5
XM_005263565.3:c.750_751insAC	XP_005263622.1:p.Val251ThrfsTer5
XM_005263568.3:c.750_751insAC	XP_005263625.1:p.Val251ThrfsTer5
XM_011510490.1:c.561_562insAC	XP_011508792.1:p.Val188ThrfsTer5
XM_005263565.4:c.750_751insAC	XP_005263622.1:p.Val251ThrfsTer5
XM_005263568.4:c.750_751insAC	XP_005263625.1:p.Val251ThrfsTer5
XM_011510490.3:c.561_562insAC	XP_011508792.1:p.Val188ThrfsTer5
XM_017003164.1:c.561_562insAC	XP_016858653.1:p.Val188ThrfsTer5
XM_017003165.2:c.-518_-517insAC	XP_016858654.1:n.-518_-517insAC
NM_006343.3:c.750_751insAC MANE Select	NP_006334.2:p.Val251ThrfsTer5