Canonical Allele Identifier: CA1831138

Gene: MERTK

Linked Data

• dbSNP Id: rs763617852
• ExAC: 2:112705140 T / TGGGGGTACTTA
• gnomAD v2: 2-112705140-T-TGGGGGTACTTA
• gnomAD v3: 2-111947563-T-TGGGGGTACTTA
• gnomAD v4: 2-111947563-T-TGGGGGTACTTA
• MyVariant Identifiers: chr2:g.112705140_112705141insGGGGGTACTTA (hg19) ; chr2:g.111947563_111947564insGGGGGTACTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947563_111947564insGGGGGTACTTA , CM000664.2:g.111947563_111947564insGGGGGTACTTA	GRCh38
NC_000002.11:g.112705140_112705141insGGGGGTACTTA , CM000664.1:g.112705140_112705141insGGGGGTACTTA	GRCh37
NC_000002.10:g.112421611_112421612insGGGGGTACTTA	NCBI36
NG_011607.1:g.53950_53951insGGGGGTACTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.753_754insGGGGGTACTTA MANE Select	ENSP00000295408.4:p.Pro252GlyfsTer7
ENST00000295408.8:c.753_754insGGGGGTACTTA	ENSP00000295408.4:p.Pro252GlyfsTer7
ENST00000409780.5:c.225_226insGGGGGTACTTA	ENSP00000387277.1:p.Pro76GlyfsTer7
ENST00000421804.6:c.753_754insGGGGGTACTTA	ENSP00000389152.2:p.Pro252GlyfsTer7
ENST00000439966.5:c.*226_*227insGGGGGTACTTA	ENSP00000402129.1:n.*226_*227insGGGGGTACTTA
ENST00000616902.4:c.-463_-462insGGGGGTACTTA	ENSP00000482824.1:n.-463_-462insGGGGGTACTTA
NM_006343.2:c.753_754insGGGGGTACTTA	NP_006334.2:p.Pro252GlyfsTer7
XM_005263565.3:c.753_754insGGGGGTACTTA	XP_005263622.1:p.Pro252GlyfsTer7
XM_005263568.3:c.753_754insGGGGGTACTTA	XP_005263625.1:p.Pro252GlyfsTer7
XM_011510490.1:c.564_565insGGGGGTACTTA	XP_011508792.1:p.Pro189GlyfsTer7
XM_005263565.4:c.753_754insGGGGGTACTTA	XP_005263622.1:p.Pro252GlyfsTer7
XM_005263568.4:c.753_754insGGGGGTACTTA	XP_005263625.1:p.Pro252GlyfsTer7
XM_011510490.3:c.564_565insGGGGGTACTTA	XP_011508792.1:p.Pro189GlyfsTer7
XM_017003164.1:c.564_565insGGGGGTACTTA	XP_016858653.1:p.Pro189GlyfsTer7
XM_017003165.2:c.-515_-514insGGGGGTACTTA	XP_016858654.1:n.-515_-514insGGGGGTACTTA
NM_006343.3:c.753_754insGGGGGTACTTA MANE Select	NP_006334.2:p.Pro252GlyfsTer7