Canonical Allele Identifier: CA1831140

Gene: MERTK

Linked Data

• dbSNP Id: rs771343213
• ExAC: 2:112705142 C / CT
• gnomAD v2: 2-112705142-C-CT
• gnomAD v3: 2-111947565-C-CT
• gnomAD v4: 2-111947565-C-CT
• MyVariant Identifiers: chr2:g.112705142_112705143insT (hg19) ; chr2:g.111947565_111947566insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947565_111947566insT , CM000664.2:g.111947565_111947566insT	GRCh38
NC_000002.11:g.112705142_112705143insT , CM000664.1:g.112705142_112705143insT	GRCh37
NC_000002.10:g.112421613_112421614insT	NCBI36
NG_011607.1:g.53952_53953insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.755_756insT MANE Select	ENSP00000295408.4:p.Gly253ArgfsTer11
ENST00000295408.8:c.755_756insT	ENSP00000295408.4:p.Gly253ArgfsTer11
ENST00000409780.5:c.227_228insT	ENSP00000387277.1:p.Gly77ArgfsTer11
ENST00000421804.6:c.755_756insT	ENSP00000389152.2:p.Gly253ArgfsTer11
ENST00000439966.5:c.*228_*229insT	ENSP00000402129.1:n.*228_*229insT
ENST00000616902.4:c.-461_-460insT	ENSP00000482824.1:n.-461_-460insT
NM_006343.2:c.755_756insT	NP_006334.2:p.Gly253ArgfsTer11
XM_005263565.3:c.755_756insT	XP_005263622.1:p.Gly253ArgfsTer11
XM_005263568.3:c.755_756insT	XP_005263625.1:p.Gly253ArgfsTer11
XM_011510490.1:c.566_567insT	XP_011508792.1:p.Gly190ArgfsTer11
XM_005263565.4:c.755_756insT	XP_005263622.1:p.Gly253ArgfsTer11
XM_005263568.4:c.755_756insT	XP_005263625.1:p.Gly253ArgfsTer11
XM_011510490.3:c.566_567insT	XP_011508792.1:p.Gly190ArgfsTer11
XM_017003164.1:c.566_567insT	XP_016858653.1:p.Gly190ArgfsTer11
XM_017003165.2:c.-513_-512insT	XP_016858654.1:n.-513_-512insT
NM_006343.3:c.755_756insT MANE Select	NP_006334.2:p.Gly253ArgfsTer11