Canonical Allele Identifier: CA2668715499

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183037432-A-ATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037432_183037433insTTG , CM000665.2:g.183037432_183037433insTTG	GRCh38
NC_000003.11:g.182755220_182755221insTTG , CM000665.1:g.182755220_182755221insTTG	GRCh37
NC_000003.10:g.184237914_184237915insTTG	NCBI36
NG_008100.1:g.67145_67146insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1379_1380insCAA MANE Select	ENSP00000265594.4:p.Ile460_Val461insAsn
ENST00000265594.8:c.1379_1380insCAA	ENSP00000265594.4:p.Ile460_Val461insAsn
ENST00000476176.5:c.1238_1239insCAA	ENSP00000420433.1:p.Ile413_Val414insAsn
ENST00000492597.5:c.1052_1053insCAA	ENSP00000419898.1:p.Ile351_Val352insAsn
ENST00000495767.5:c.*960_*961insCAA	ENSP00000419658.1:n.*960_*961insCAA
ENST00000497830.5:c.*976_*977insCAA	ENSP00000420088.1:n.*976_*977insCAA
ENST00000497959.5:c.1263+1593_1263+1594insCAA	ENSP00000420648.1:n.1263+1593_1263+1594insCAA
ENST00000539926.5:c.929_930insCAA	ENSP00000441253.2:p.Ile310_Val311insAsn
ENST00000610757.4:c.929_930insCAA	ENSP00000480435.1:p.Ile310_Val311insAsn
ENST00000629669.2:c.1263+1593_1263+1594insCAA	ENSP00000486824.1:n.1263+1593_1263+1594insCAA
NM_001293273.1:c.1028_1029insCAA	NP_001280202.1:p.Ile343_Val344insAsn
NM_020166.4:c.1379_1380insCAA	NP_064551.3:p.Ile460_Val461insAsn
NR_120639.1:n.1293_1294insCAA
NR_120640.1:n.2044+1593_2044+1594insCAA
XM_006713702.1:c.1052_1053insCAA	XP_006713765.1:p.Ile351_Val352insAsn
XM_011512992.1:c.1265_1266insCAA	XP_011511294.1:p.Ile422_Val423insAsn
XM_011512993.1:c.1377+1593_1377+1594insCAA	XP_011511295.1:n.1377+1593_1377+1594insCAA
XR_241502.2:n.1524+1593_1524+1594insCAA
XR_924159.1:n.1526_1527insCAA
NM_001363880.1:c.1052_1053insCAA	NP_001350809.1:p.Ile351_Val352insAsn
XM_011512992.2:c.1265_1266insCAA	XP_011511294.1:p.Ile422_Val423insAsn
XR_001740207.2:n.1502_1503insCAA
XR_001740208.2:n.1502_1503insCAA
XR_001740209.2:n.1470+1593_1470+1594insCAA
XR_001740210.1:n.1332_1333insCAA
XR_002959553.1:n.1502_1503insCAA
XR_002959554.1:n.1500+1593_1500+1594insCAA
XR_241502.3:n.1470+1593_1470+1594insCAA
NM_020166.5:c.1379_1380insCAA MANE Select	NP_064551.3:p.Ile460_Val461insAsn
NM_001293273.2:c.1028_1029insCAA	NP_001280202.1:p.Ile343_Val344insAsn
NR_120639.2:n.1202_1203insCAA
NR_120640.2:n.2044+1593_2044+1594insCAA