Canonical Allele Identifier: CA2580063751

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1929275
• ClinVar RCV Id: RCV002635270

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111929407_111929410del , CM000664.2:g.111929407_111929410del	GRCh38
NC_000002.11:g.112686984_112686987del , CM000664.1:g.112686984_112686987del	GRCh37
NC_000002.10:g.112403455_112403458del	NCBI36
NG_011607.1:g.35794_35797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.349_352del MANE Select	ENSP00000295408.4:p.Ile117ValfsTer?
ENST00000295408.8:c.349_352del	ENSP00000295408.4:p.Ile117ValfsTer?
ENST00000409780.5:c.-46-15553_-46-15550del	ENSP00000387277.1:n.-46-15553_-46-15550del
ENST00000421804.6:c.349_352del	ENSP00000389152.2:p.Ile117ValfsTer?
ENST00000439966.5:c.246+103_246+106del	ENSP00000402129.1:n.246+103_246+106del
ENST00000616902.4:c.-867_-864del	ENSP00000482824.1:n.-867_-864del
NM_006343.2:c.349_352del	NP_006334.2:p.Ile117ValfsTer?
XM_005263565.3:c.349_352del	XP_005263622.1:p.Ile117ValfsTer?
XM_005263568.3:c.349_352del	XP_005263625.1:p.Ile117ValfsTer?
XM_011510490.1:c.160_163del	XP_011508792.1:p.Ile54ValfsTer?
XM_005263565.4:c.349_352del	XP_005263622.1:p.Ile117ValfsTer?
XM_005263568.4:c.349_352del	XP_005263625.1:p.Ile117ValfsTer?
XM_011510490.3:c.160_163del	XP_011508792.1:p.Ile54ValfsTer?
XM_017003164.1:c.160_163del	XP_016858653.1:p.Ile54ValfsTer?
XM_017003165.2:c.-919_-916del	XP_016858654.1:n.-919_-916del
NM_006343.3:c.349_352del MANE Select	NP_006334.2:p.Ile117ValfsTer?