Canonical Allele Identifier: CA755214073

Gene: MERTK

Linked Data

• dbSNP Id: rs763617852
• MyVariant Identifiers: chr2:g.112705140_112705141insGGGGGTACTTAC (hg19) ; chr2:g.111947563_111947564insGGGGGTACTTAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947563_111947564insGGGGGTACTTAC , CM000664.2:g.111947563_111947564insGGGGGTACTTAC	GRCh38
NC_000002.11:g.112705140_112705141insGGGGGTACTTAC , CM000664.1:g.112705140_112705141insGGGGGTACTTAC	GRCh37
NC_000002.10:g.112421611_112421612insGGGGGTACTTAC	NCBI36
NG_011607.1:g.53950_53951insGGGGGTACTTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.753_754insGGGGGTACTTAC MANE Select	ENSP00000295408.4:p.Val251_Pro252insGlyGlyThrTyr
ENST00000295408.8:c.753_754insGGGGGTACTTAC	ENSP00000295408.4:p.Val251_Pro252insGlyGlyThrTyr
ENST00000409780.5:c.225_226insGGGGGTACTTAC	ENSP00000387277.1:p.Val75_Pro76insGlyGlyThrTyr
ENST00000421804.6:c.753_754insGGGGGTACTTAC	ENSP00000389152.2:p.Val251_Pro252insGlyGlyThrTyr
ENST00000439966.5:c.*226_*227insGGGGGTACTTAC	ENSP00000402129.1:n.*226_*227insGGGGGTACTTAC
ENST00000616902.4:c.-463_-462insGGGGGTACTTAC	ENSP00000482824.1:n.-463_-462insGGGGGTACTTAC
NM_006343.2:c.753_754insGGGGGTACTTAC	NP_006334.2:p.Val251_Pro252insGlyGlyThrTyr
XM_005263565.3:c.753_754insGGGGGTACTTAC	XP_005263622.1:p.Val251_Pro252insGlyGlyThrTyr
XM_005263568.3:c.753_754insGGGGGTACTTAC	XP_005263625.1:p.Val251_Pro252insGlyGlyThrTyr
XM_011510490.1:c.564_565insGGGGGTACTTAC	XP_011508792.1:p.Val188_Pro189insGlyGlyThrTyr
XM_005263565.4:c.753_754insGGGGGTACTTAC	XP_005263622.1:p.Val251_Pro252insGlyGlyThrTyr
XM_005263568.4:c.753_754insGGGGGTACTTAC	XP_005263625.1:p.Val251_Pro252insGlyGlyThrTyr
XM_011510490.3:c.564_565insGGGGGTACTTAC	XP_011508792.1:p.Val188_Pro189insGlyGlyThrTyr
XM_017003164.1:c.564_565insGGGGGTACTTAC	XP_016858653.1:p.Val188_Pro189insGlyGlyThrTyr
XM_017003165.2:c.-515_-514insGGGGGTACTTAC	XP_016858654.1:n.-515_-514insGGGGGTACTTAC
NM_006343.3:c.753_754insGGGGGTACTTAC MANE Select	NP_006334.2:p.Val251_Pro252insGlyGlyThrTyr