Canonical Allele Identifier: CA1279566556

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1004018
• ClinVar RCV Id: RCV001300654
• dbSNP Id: rs1676769913

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997385_111997393dup , CM000664.2:g.111997385_111997393dup	GRCh38
NC_000002.11:g.112754962_112754970dup , CM000664.1:g.112754962_112754970dup	GRCh37
NC_000002.10:g.112471433_112471441dup	NCBI36
NG_011607.1:g.103772_103780dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1513_1521dup MANE Select	ENSP00000295408.4:p.Gly507_Cys508insIlePheGly
ENST00000295408.8:c.1513_1521dup	ENSP00000295408.4:p.Gly507_Cys508insIlePheGly
ENST00000409780.5:c.985_993dup	ENSP00000387277.1:p.Gly331_Cys332insIlePheGly
ENST00000421804.6:c.1513_1521dup	ENSP00000389152.2:p.Gly507_Cys508insIlePheGly
ENST00000439966.5:c.*986_*994dup	ENSP00000402129.1:n.*986_*994dup
ENST00000473065.1:n.16_24dup
ENST00000616902.4:c.482_490dup	ENSP00000482824.1:p.Trp163_Leu164insHisLeuTrp
NM_006343.2:c.1513_1521dup	NP_006334.2:p.Gly507_Cys508insIlePheGly
XM_005263565.3:c.1513_1521dup	XP_005263622.1:p.Gly507_Cys508insIlePheGly
XM_005263568.3:c.1513_1521dup	XP_005263625.1:p.Gly507_Cys508insIlePheGly
XM_011510490.1:c.1324_1332dup	XP_011508792.1:p.Gly444_Cys445insIlePheGly
XM_011510491.1:c.298_306dup	XP_011508793.1:p.Gly102_Cys103insIlePheGly
XM_005263565.4:c.1513_1521dup	XP_005263622.1:p.Gly507_Cys508insIlePheGly
XM_005263568.4:c.1513_1521dup	XP_005263625.1:p.Gly507_Cys508insIlePheGly
XM_011510490.3:c.1324_1332dup	XP_011508792.1:p.Gly444_Cys445insIlePheGly
XM_017003164.1:c.1324_1332dup	XP_016858653.1:p.Gly444_Cys445insIlePheGly
XM_017003165.2:c.298_306dup	XP_016858654.1:p.Gly102_Cys103insIlePheGly
NM_006343.3:c.1513_1521dup MANE Select	NP_006334.2:p.Gly507_Cys508insIlePheGly