Canonical Allele Identifier: CA903588403

Gene: MCCC1

Linked Data

• dbSNP Id: rs1407222083
• gnomAD v3: 3-183037547-AT-A
• gnomAD v4: 3-183037547-AT-A
• MyVariant Identifiers: chr3:g.182755336del (hg19) ; chr3:g.183037548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037548del , CM000665.2:g.183037548del	GRCh38
NC_000003.11:g.182755336del , CM000665.1:g.182755336del	GRCh37
NC_000003.10:g.184238030del	NCBI36
NG_008100.1:g.67030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1378-114del MANE Select	ENSP00000265594.4:n.1378-114del
ENST00000265594.8:c.1378-114del	ENSP00000265594.4:n.1378-114del
ENST00000476176.5:c.1237-114del	ENSP00000420433.1:n.1237-114del
ENST00000492597.5:c.1051-114del	ENSP00000419898.1:n.1051-114del
ENST00000495767.5:c.*959-114del	ENSP00000419658.1:n.*959-114del
ENST00000497830.5:c.*975-114del	ENSP00000420088.1:n.*975-114del
ENST00000497959.5:c.1263+1478del	ENSP00000420648.1:n.1263+1478del
ENST00000539926.5:c.928-114del	ENSP00000441253.2:n.928-114del
ENST00000610757.4:c.928-114del	ENSP00000480435.1:n.928-114del
ENST00000629669.2:c.1263+1478del	ENSP00000486824.1:n.1263+1478del
NM_001293273.1:c.1027-114del	NP_001280202.1:n.1027-114del
NM_020166.4:c.1378-114del	NP_064551.3:n.1378-114del
NR_120639.1:n.1292-114del
NR_120640.1:n.2044+1478del
XM_006713702.1:c.1051-114del	XP_006713765.1:n.1051-114del
XM_011512992.1:c.1264-114del	XP_011511294.1:n.1264-114del
XM_011512993.1:c.1377+1478del	XP_011511295.1:n.1377+1478del
XR_241502.2:n.1524+1478del
XR_924159.1:n.1525-114del
NM_001363880.1:c.1051-114del	NP_001350809.1:n.1051-114del
XM_011512992.2:c.1264-114del	XP_011511294.1:n.1264-114del
XR_001740207.2:n.1501-114del
XR_001740208.2:n.1501-114del
XR_001740209.2:n.1470+1478del
XR_001740210.1:n.1331-114del
XR_002959553.1:n.1501-114del
XR_002959554.1:n.1500+1478del
XR_241502.3:n.1470+1478del
NM_020166.5:c.1378-114del MANE Select	NP_064551.3:n.1378-114del
NM_001293273.2:c.1027-114del	NP_001280202.1:n.1027-114del
NR_120639.2:n.1201-114del
NR_120640.2:n.2044+1478del