Canonical Allele Identifier: CA1425382858
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183038836_183038838delinsACT , CM000665.2:g.183038836_183038838delinsACT GRCh38
NC_000003.11:g.182756624_182756626delinsACT , CM000665.1:g.182756624_182756626delinsACT GRCh37
NC_000003.10:g.184239318_184239320delinsACT NCBI36
NG_008100.1:g.65740_65742delinsAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1377+188_1377+190delinsAGT MANE Select ENSP00000265594.4:n.1377+188_1377+190delinsAGT
ENST00000265594.8:c.1377+188_1377+190delinsAGT ENSP00000265594.4:n.1377+188_1377+190delinsAGT
ENST00000476176.5:c.1236+188_1236+190delinsAGT ENSP00000420433.1:n.1236+188_1236+190delinsAGT
ENST00000492597.5:c.1050+188_1050+190delinsAGT ENSP00000419898.1:n.1050+188_1050+190delinsAGT
ENST00000495767.5:c.*958+188_*958+190delinsAGT ENSP00000419658.1:n.*958+188_*958+190delinsAGT
ENST00000497830.5:c.*974+188_*974+190delinsAGT ENSP00000420088.1:n.*974+188_*974+190delinsAGT
ENST00000497959.5:c.1263+188_1263+190delinsAGT ENSP00000420648.1:n.1263+188_1263+190delinsAGT
ENST00000539926.5:c.927+188_927+190delinsAGT ENSP00000441253.2:n.927+188_927+190delinsAGT
ENST00000610757.4:c.927+188_927+190delinsAGT ENSP00000480435.1:n.927+188_927+190delinsAGT
ENST00000629669.2:c.1263+188_1263+190delinsAGT ENSP00000486824.1:n.1263+188_1263+190delinsAGT
NM_001293273.1:c.1026+188_1026+190delinsAGT NP_001280202.1:n.1026+188_1026+190delinsAGT
NM_020166.4:c.1377+188_1377+190delinsAGT NP_064551.3:n.1377+188_1377+190delinsAGT
NR_120639.1:n.1291+188_1291+190delinsAGT
NR_120640.1:n.2044+188_2044+190delinsAGT
XM_006713702.1:c.1050+188_1050+190delinsAGT XP_006713765.1:n.1050+188_1050+190delinsAGT
XM_011512992.1:c.1263+188_1263+190delinsAGT XP_011511294.1:n.1263+188_1263+190delinsAGT
XM_011512993.1:c.1377+188_1377+190delinsAGT XP_011511295.1:n.1377+188_1377+190delinsAGT
XR_241502.2:n.1524+188_1524+190delinsAGT
XR_924159.1:n.1524+188_1524+190delinsAGT
NM_001363880.1:c.1050+188_1050+190delinsAGT NP_001350809.1:n.1050+188_1050+190delinsAGT
XM_011512992.2:c.1263+188_1263+190delinsAGT XP_011511294.1:n.1263+188_1263+190delinsAGT
XR_001740207.2:n.1500+188_1500+190delinsAGT
XR_001740208.2:n.1500+188_1500+190delinsAGT
XR_001740209.2:n.1470+188_1470+190delinsAGT
XR_001740210.1:n.1330+188_1330+190delinsAGT
XR_002959553.1:n.1500+188_1500+190delinsAGT
XR_002959554.1:n.1500+188_1500+190delinsAGT
XR_241502.3:n.1470+188_1470+190delinsAGT
NM_020166.5:c.1377+188_1377+190delinsAGT MANE Select NP_064551.3:n.1377+188_1377+190delinsAGT
NM_001293273.2:c.1026+188_1026+190delinsAGT NP_001280202.1:n.1026+188_1026+190delinsAGT
NR_120639.2:n.1200+188_1200+190delinsAGT
NR_120640.2:n.2044+188_2044+190delinsAGT