Canonical Allele Identifier: CA2539692015

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183037469-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037473dup , CM000665.2:g.183037473dup	GRCh38
NC_000003.11:g.182755261dup , CM000665.1:g.182755261dup	GRCh37
NC_000003.10:g.184237955dup	NCBI36
NG_008100.1:g.67108dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1378-36dup MANE Select	ENSP00000265594.4:n.1378-36dup
ENST00000265594.8:c.1378-36dup	ENSP00000265594.4:n.1378-36dup
ENST00000476176.5:c.1237-36dup	ENSP00000420433.1:n.1237-36dup
ENST00000492597.5:c.1051-36dup	ENSP00000419898.1:n.1051-36dup
ENST00000495767.5:c.*959-36dup	ENSP00000419658.1:n.*959-36dup
ENST00000497830.5:c.*975-36dup	ENSP00000420088.1:n.*975-36dup
ENST00000497959.5:c.1263+1556dup	ENSP00000420648.1:n.1263+1556dup
ENST00000539926.5:c.928-36dup	ENSP00000441253.2:n.928-36dup
ENST00000610757.4:c.928-36dup	ENSP00000480435.1:n.928-36dup
ENST00000629669.2:c.1263+1556dup	ENSP00000486824.1:n.1263+1556dup
NM_001293273.1:c.1027-36dup	NP_001280202.1:n.1027-36dup
NM_020166.4:c.1378-36dup	NP_064551.3:n.1378-36dup
NR_120639.1:n.1292-36dup
NR_120640.1:n.2044+1556dup
XM_006713702.1:c.1051-36dup	XP_006713765.1:n.1051-36dup
XM_011512992.1:c.1264-36dup	XP_011511294.1:n.1264-36dup
XM_011512993.1:c.1377+1556dup	XP_011511295.1:n.1377+1556dup
XR_241502.2:n.1524+1556dup
XR_924159.1:n.1525-36dup
NM_001363880.1:c.1051-36dup	NP_001350809.1:n.1051-36dup
XM_011512992.2:c.1264-36dup	XP_011511294.1:n.1264-36dup
XR_001740207.2:n.1501-36dup
XR_001740208.2:n.1501-36dup
XR_001740209.2:n.1470+1556dup
XR_001740210.1:n.1331-36dup
XR_002959553.1:n.1501-36dup
XR_002959554.1:n.1500+1556dup
XR_241502.3:n.1470+1556dup
NM_020166.5:c.1378-36dup MANE Select	NP_064551.3:n.1378-36dup
NM_001293273.2:c.1027-36dup	NP_001280202.1:n.1027-36dup
NR_120639.2:n.1201-36dup
NR_120640.2:n.2044+1556dup