Canonical Allele Identifier: CA2668715774

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183039072-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039073del , CM000665.2:g.183039073del	GRCh38
NC_000003.11:g.182756861del , CM000665.1:g.182756861del	GRCh37
NC_000003.10:g.184239555del	NCBI36
NG_008100.1:g.65505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1330del MANE Select	ENSP00000265594.4:p.Arg444AlafsTer5
ENST00000265594.8:c.1330del	ENSP00000265594.4:p.Arg444AlafsTer5
ENST00000476176.5:c.1189del	ENSP00000420433.1:p.Arg397AlafsTer5
ENST00000492597.5:c.1003del	ENSP00000419898.1:p.Arg335AlafsTer5
ENST00000495767.5:c.*911del	ENSP00000419658.1:n.*911del
ENST00000497830.5:c.*927del	ENSP00000420088.1:n.*927del
ENST00000497959.5:c.1216del	ENSP00000420648.1:p.Arg406AlafsTer5
ENST00000539926.5:c.880del	ENSP00000441253.2:p.Arg294AlafsTer5
ENST00000610757.4:c.880del	ENSP00000480435.1:p.Arg294AlafsTer5
ENST00000629669.2:c.1216del	ENSP00000486824.1:p.Arg406AlafsTer5
NM_001293273.1:c.979del	NP_001280202.1:p.Arg327AlafsTer5
NM_020166.4:c.1330del	NP_064551.3:p.Arg444AlafsTer5
NR_120639.1:n.1244del
NR_120640.1:n.1997del
XM_006713702.1:c.1003del	XP_006713765.1:p.Arg335AlafsTer5
XM_011512992.1:c.1216del	XP_011511294.1:p.Arg406AlafsTer5
XM_011512993.1:c.1330del	XP_011511295.1:p.Arg444AlafsTer5
XR_241502.2:n.1477del
XR_924159.1:n.1477del
NM_001363880.1:c.1003del	NP_001350809.1:p.Arg335AlafsTer5
XM_011512992.2:c.1216del	XP_011511294.1:p.Arg406AlafsTer5
XR_001740207.2:n.1453del
XR_001740208.2:n.1453del
XR_001740209.2:n.1423del
XR_001740210.1:n.1283del
XR_002959553.1:n.1453del
XR_002959554.1:n.1453del
XR_241502.3:n.1423del
NM_020166.5:c.1330del MANE Select	NP_064551.3:p.Arg444AlafsTer5
NM_001293273.2:c.979del	NP_001280202.1:p.Arg327AlafsTer5
NR_120639.2:n.1153del
NR_120640.2:n.1997del