Canonical Allele Identifier: CA2668715418

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183037347-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037348dup , CM000665.2:g.183037348dup	GRCh38
NC_000003.11:g.182755136dup , CM000665.1:g.182755136dup	GRCh37
NC_000003.10:g.184237830dup	NCBI36
NG_008100.1:g.67230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1464dup MANE Select	ENSP00000265594.4:p.Ile489HisfsTer?
ENST00000265594.8:c.1464dup	ENSP00000265594.4:p.Ile489HisfsTer?
ENST00000476176.5:c.1323dup	ENSP00000420433.1:p.Ile442HisfsTer?
ENST00000489909.1:n.8dup
ENST00000492597.5:c.1137dup	ENSP00000419898.1:p.Ile380HisfsTer?
ENST00000495767.5:c.*1045dup	ENSP00000419658.1:n.*1045dup
ENST00000497830.5:c.*1061dup	ENSP00000420088.1:n.*1061dup
ENST00000497959.5:c.1263+1678dup	ENSP00000420648.1:n.1263+1678dup
ENST00000539926.5:c.1014dup	ENSP00000441253.2:p.Ile339HisfsTer?
ENST00000610757.4:c.1014dup	ENSP00000480435.1:p.Ile339HisfsTer?
ENST00000629669.2:c.1263+1678dup	ENSP00000486824.1:n.1263+1678dup
NM_001293273.1:c.1113dup	NP_001280202.1:p.Ile372HisfsTer?
NM_020166.4:c.1464dup	NP_064551.3:p.Ile489HisfsTer?
NR_120639.1:n.1378dup
NR_120640.1:n.2044+1678dup
XM_006713702.1:c.1137dup	XP_006713765.1:p.Ile380HisfsTer?
XM_011512992.1:c.1350dup	XP_011511294.1:p.Ile451HisfsTer?
XM_011512993.1:c.1377+1678dup	XP_011511295.1:n.1377+1678dup
XR_241502.2:n.1524+1678dup
XR_924159.1:n.1611dup
NM_001363880.1:c.1137dup	NP_001350809.1:p.Ile380HisfsTer?
XM_011512992.2:c.1350dup	XP_011511294.1:p.Ile451HisfsTer?
XR_001740207.2:n.1587dup
XR_001740208.2:n.1587dup
XR_001740209.2:n.1470+1678dup
XR_001740210.1:n.1417dup
XR_002959553.1:n.1587dup
XR_002959554.1:n.1500+1678dup
XR_241502.3:n.1470+1678dup
NM_020166.5:c.1464dup MANE Select	NP_064551.3:p.Ile489HisfsTer?
NM_001293273.2:c.1113dup	NP_001280202.1:p.Ile372HisfsTer?
NR_120639.2:n.1287dup
NR_120640.2:n.2044+1678dup