Canonical Allele Identifier: CA2577969819

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183037503-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037508del , CM000665.2:g.183037508del	GRCh38
NC_000003.11:g.182755296del , CM000665.1:g.182755296del	GRCh37
NC_000003.10:g.184237990del	NCBI36
NG_008100.1:g.67074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1378-70del MANE Select	ENSP00000265594.4:n.1378-70del
ENST00000265594.8:c.1378-70del	ENSP00000265594.4:n.1378-70del
ENST00000476176.5:c.1237-70del	ENSP00000420433.1:n.1237-70del
ENST00000492597.5:c.1051-70del	ENSP00000419898.1:n.1051-70del
ENST00000495767.5:c.*959-70del	ENSP00000419658.1:n.*959-70del
ENST00000497830.5:c.*975-70del	ENSP00000420088.1:n.*975-70del
ENST00000497959.5:c.1263+1522del	ENSP00000420648.1:n.1263+1522del
ENST00000539926.5:c.928-70del	ENSP00000441253.2:n.928-70del
ENST00000610757.4:c.928-70del	ENSP00000480435.1:n.928-70del
ENST00000629669.2:c.1263+1522del	ENSP00000486824.1:n.1263+1522del
NM_001293273.1:c.1027-70del	NP_001280202.1:n.1027-70del
NM_020166.4:c.1378-70del	NP_064551.3:n.1378-70del
NR_120639.1:n.1292-70del
NR_120640.1:n.2044+1522del
XM_006713702.1:c.1051-70del	XP_006713765.1:n.1051-70del
XM_011512992.1:c.1264-70del	XP_011511294.1:n.1264-70del
XM_011512993.1:c.1377+1522del	XP_011511295.1:n.1377+1522del
XR_241502.2:n.1524+1522del
XR_924159.1:n.1525-70del
NM_001363880.1:c.1051-70del	NP_001350809.1:n.1051-70del
XM_011512992.2:c.1264-70del	XP_011511294.1:n.1264-70del
XR_001740207.2:n.1501-70del
XR_001740208.2:n.1501-70del
XR_001740209.2:n.1470+1522del
XR_001740210.1:n.1331-70del
XR_002959553.1:n.1501-70del
XR_002959554.1:n.1500+1522del
XR_241502.3:n.1470+1522del
NM_020166.5:c.1378-70del MANE Select	NP_064551.3:n.1378-70del
NM_001293273.2:c.1027-70del	NP_001280202.1:n.1027-70del
NR_120639.2:n.1201-70del
NR_120640.2:n.2044+1522del