Canonical Allele Identifier: CA2580063748

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1920111
• ClinVar RCV Id: RCV002590987

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112008395_112008396delinsTG , CM000664.2:g.112008395_112008396delinsTG	GRCh38
NC_000002.11:g.112765972_112765973delinsTG , CM000664.1:g.112765972_112765973delinsTG	GRCh37
NC_000002.10:g.112482443_112482444delinsTG	NCBI36
NG_011607.1:g.114782_114783delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1880_1881delinsTG MANE Select	ENSP00000295408.4:p.Ser627Leu
ENST00000295408.8:c.1880_1881delinsTG	ENSP00000295408.4:p.Ser627Leu
ENST00000409780.5:c.1352_1353delinsTG	ENSP00000387277.1:p.Ser451Leu
ENST00000421804.6:c.1880_1881delinsTG	ENSP00000389152.2:p.Ser627Leu
ENST00000439966.5:c.*1353_*1354delinsTG	ENSP00000402129.1:n.*1353_*1354delinsTG
ENST00000616902.4:c.845_846delinsTG	ENSP00000482824.1:p.Ser282Leu
NM_006343.2:c.1880_1881delinsTG	NP_006334.2:p.Ser627Leu
XM_005263565.3:c.1880_1881delinsTG	XP_005263622.1:p.Ser627Leu
XM_005263568.3:c.1880_1881delinsTG	XP_005263625.1:p.Ser627Leu
XM_011510490.1:c.1691_1692delinsTG	XP_011508792.1:p.Ser564Leu
XM_011510491.1:c.665_666delinsTG	XP_011508793.1:p.Ser222Leu
XM_005263565.4:c.1880_1881delinsTG	XP_005263622.1:p.Ser627Leu
XM_005263568.4:c.1880_1881delinsTG	XP_005263625.1:p.Ser627Leu
XM_011510490.3:c.1691_1692delinsTG	XP_011508792.1:p.Ser564Leu
XM_017003164.1:c.1691_1692delinsTG	XP_016858653.1:p.Ser564Leu
XM_017003165.2:c.665_666delinsTG	XP_016858654.1:p.Ser222Leu
NM_006343.3:c.1880_1881delinsTG MANE Select	NP_006334.2:p.Ser627Leu