Canonical Allele Identifier: CA2530982957
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111947696_111947697insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA , CM000664.2:g.111947696_111947697insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA GRCh38
NC_000002.11:g.112705273_112705274insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA , CM000664.1:g.112705273_112705274insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA GRCh37
NC_000002.10:g.112421744_112421745insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA NCBI36
NG_011607.1:g.54083_54084insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA MANE Select ENSP00000295408.4:n.757+129_757+130insTACTGCTGTCGCTACCGACCGCT...
ENST00000295408.8:c.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA ENSP00000295408.4:n.757+129_757+130insTACTGCTGTCGCTACCGACCGCT...
ENST00000409780.5:c.229+129_229+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA ENSP00000387277.1:n.229+129_229+130insTACTGCTGTCGCTACCGACCGCT...
ENST00000421804.6:c.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA ENSP00000389152.2:n.757+129_757+130insTACTGCTGTCGCTACCGACCGCT...
ENST00000439966.5:c.*230+129_*230+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA ENSP00000402129.1:n.*230+129_*230+130insTACTGCTGTCGCTACCGACCG...
ENST00000616902.4:c.-459+129_-459+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA ENSP00000482824.1:n.-459+129_-459+130insTACTGCTGTCGCTACCGACCG...
NM_006343.2:c.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA NP_006334.2:n.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCG...
XM_005263565.3:c.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA XP_005263622.1:n.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTAT...
XM_005263568.3:c.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA XP_005263625.1:n.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTAT...
XM_011510490.1:c.568+129_568+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA XP_011508792.1:n.568+129_568+130insTACTGCTGTCGCTACCGACCGCTTAT...
XM_005263565.4:c.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA XP_005263622.1:n.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTAT...
XM_005263568.4:c.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA XP_005263625.1:n.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTAT...
XM_011510490.3:c.568+129_568+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA XP_011508792.1:n.568+129_568+130insTACTGCTGTCGCTACCGACCGCTTAT...
XM_017003164.1:c.568+129_568+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA XP_016858653.1:n.568+129_568+130insTACTGCTGTCGCTACCGACCGCTTAT...
XM_017003165.2:c.-511+129_-511+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA XP_016858654.1:n.-511+129_-511+130insTACTGCTGTCGCTACCGACCGCTT...
NM_006343.3:c.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCGTTTGGGCGCATGACTTTTCGTGGCAAAGGCGTCGCAGAA MANE Select NP_006334.2:n.757+129_757+130insTACTGCTGTCGCTACCGACCGCTTATGCG...