Canonical Allele Identifier: CA535187004

Gene: MERTK

Linked Data

• dbSNP Id: rs1558805542
• gnomAD v2: 2-112765977-CG-C
• gnomAD v4: 2-112008400-CG-C
• MyVariant Identifiers: chr2:g.112765978del (hg19) ; chr2:g.112008401del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112008403del , CM000664.2:g.112008403del	GRCh38
NC_000002.11:g.112765980del , CM000664.1:g.112765980del	GRCh37
NC_000002.10:g.112482451del	NCBI36
NG_011607.1:g.114790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1888del MANE Select	ENSP00000295408.4:p.Glu630ArgfsTer12
ENST00000295408.8:c.1888del	ENSP00000295408.4:p.Glu630ArgfsTer12
ENST00000409780.5:c.1360del	ENSP00000387277.1:p.Glu454ArgfsTer12
ENST00000421804.6:c.1888del	ENSP00000389152.2:p.Glu630ArgfsTer12
ENST00000439966.5:c.*1361del	ENSP00000402129.1:n.*1361del
ENST00000616902.4:c.853del	ENSP00000482824.1:p.Glu285ArgfsTer12
NM_006343.2:c.1888del	NP_006334.2:p.Glu630ArgfsTer12
XM_005263565.3:c.1888del	XP_005263622.1:p.Glu630ArgfsTer12
XM_005263568.3:c.1888del	XP_005263625.1:p.Glu630ArgfsTer12
XM_011510490.1:c.1699del	XP_011508792.1:p.Glu567ArgfsTer12
XM_011510491.1:c.673del	XP_011508793.1:p.Glu225ArgfsTer12
XM_005263565.4:c.1888del	XP_005263622.1:p.Glu630ArgfsTer12
XM_005263568.4:c.1888del	XP_005263625.1:p.Glu630ArgfsTer12
XM_011510490.3:c.1699del	XP_011508792.1:p.Glu567ArgfsTer12
XM_017003164.1:c.1699del	XP_016858653.1:p.Glu567ArgfsTer12
XM_017003165.2:c.673del	XP_016858654.1:p.Glu225ArgfsTer12
NM_006343.3:c.1888del MANE Select	NP_006334.2:p.Glu630ArgfsTer12