Canonical Allele Identifier: CA916082617

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 841106
• ClinVar RCV Id: RCV001043256
• dbSNP Id: rs1713693597
• gnomAD v4: 3-183037267-GAGACCCAGGGCTGCCTGGCATAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037272_183037294del , CM000665.2:g.183037272_183037294del	GRCh38
NC_000003.11:g.182755060_182755082del , CM000665.1:g.182755060_182755082del	GRCh37
NC_000003.10:g.184237754_184237776del	NCBI36
NG_008100.1:g.67288_67310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1522_1544del MANE Select	ENSP00000265594.4:p.Leu508HisfsTer17
ENST00000265594.8:c.1522_1544del	ENSP00000265594.4:p.Leu508HisfsTer17
ENST00000476176.5:c.1381_1403del	ENSP00000420433.1:p.Leu461HisfsTer17
ENST00000489909.1:n.66_88del
ENST00000492597.5:c.1195_1217del	ENSP00000419898.1:p.Leu399HisfsTer17
ENST00000495767.5:c.*1103_*1125del	ENSP00000419658.1:n.*1103_*1125del
ENST00000497830.5:c.*1119_*1141del	ENSP00000420088.1:n.*1119_*1141del
ENST00000497959.5:c.1263+1736_1263+1758del	ENSP00000420648.1:n.1263+1736_1263+1758del
ENST00000539926.5:c.1072_1094del	ENSP00000441253.2:p.Leu358HisfsTer17
ENST00000610757.4:c.1072_1094del	ENSP00000480435.1:p.Leu358HisfsTer17
ENST00000629669.2:c.1263+1736_1263+1758del	ENSP00000486824.1:n.1263+1736_1263+1758del
NM_001293273.1:c.1171_1193del	NP_001280202.1:p.Leu391HisfsTer17
NM_020166.4:c.1522_1544del	NP_064551.3:p.Leu508HisfsTer17
NR_120639.1:n.1436_1458del
NR_120640.1:n.2044+1736_2044+1758del
XM_006713702.1:c.1195_1217del	XP_006713765.1:p.Leu399HisfsTer17
XM_011512992.1:c.1408_1430del	XP_011511294.1:p.Leu470HisfsTer17
XM_011512993.1:c.1377+1736_1377+1758del	XP_011511295.1:n.1377+1736_1377+1758del
XR_241502.2:n.1524+1736_1524+1758del
XR_924159.1:n.1669_1691del
NM_001363880.1:c.1195_1217del	NP_001350809.1:p.Leu399HisfsTer17
XM_011512992.2:c.1408_1430del	XP_011511294.1:p.Leu470HisfsTer17
XR_001740207.2:n.1645_1667del
XR_001740208.2:n.1645_1667del
XR_001740209.2:n.1470+1736_1470+1758del
XR_001740210.1:n.1475_1497del
XR_002959553.1:n.1645_1667del
XR_002959554.1:n.1500+1736_1500+1758del
XR_241502.3:n.1470+1736_1470+1758del
NM_020166.5:c.1522_1544del MANE Select	NP_064551.3:p.Leu508HisfsTer17
NM_001293273.2:c.1171_1193del	NP_001280202.1:p.Leu391HisfsTer17
NR_120639.2:n.1345_1367del
NR_120640.2:n.2044+1736_2044+1758del