Canonical Allele Identifier: CA2751717269
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111947564_111947565del , CM000664.2:g.111947564_111947565del GRCh38
NC_000002.11:g.112705141_112705142del , CM000664.1:g.112705141_112705142del GRCh37
NC_000002.10:g.112421612_112421613del NCBI36
NG_011607.1:g.53951_53952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.754_755del MANE Select ENSP00000295408.4:p.Pro252ArgfsTer11
ENST00000295408.8:c.754_755del ENSP00000295408.4:p.Pro252ArgfsTer11
ENST00000409780.5:c.226_227del ENSP00000387277.1:p.Pro76ArgfsTer11
ENST00000421804.6:c.754_755del ENSP00000389152.2:p.Pro252ArgfsTer11
ENST00000439966.5:c.*227_*228del ENSP00000402129.1:n.*227_*228del
ENST00000616902.4:c.-462_-461del ENSP00000482824.1:n.-462_-461del
NM_006343.2:c.754_755del NP_006334.2:p.Pro252ArgfsTer11
XM_005263565.3:c.754_755del XP_005263622.1:p.Pro252ArgfsTer11
XM_005263568.3:c.754_755del XP_005263625.1:p.Pro252ArgfsTer11
XM_011510490.1:c.565_566del XP_011508792.1:p.Pro189ArgfsTer11
XM_005263565.4:c.754_755del XP_005263622.1:p.Pro252ArgfsTer11
XM_005263568.4:c.754_755del XP_005263625.1:p.Pro252ArgfsTer11
XM_011510490.3:c.565_566del XP_011508792.1:p.Pro189ArgfsTer11
XM_017003164.1:c.565_566del XP_016858653.1:p.Pro189ArgfsTer11
XM_017003165.2:c.-514_-513del XP_016858654.1:n.-514_-513del
NM_006343.3:c.754_755del MANE Select NP_006334.2:p.Pro252ArgfsTer11