Canonical Allele Identifier: CA251979

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183015537del , CM000665.2:g.183015537del	GRCh38
NC_000003.11:g.182733325del , CM000665.1:g.182733325del	GRCh37
NC_000003.10:g.184216019del	NCBI36
NG_008100.1:g.89041del

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.2079del MANE Select	NP_064551.3:p.Val694Ter
ENST00000265594.9:c.2079del MANE Select	ENSP00000265594.4:p.Val694Ter
NM_001293273.1:c.1728del	NP_001280202.1:p.Val577Ter
NM_001293273.2:c.1728del	NP_001280202.1:p.Val577Ter
NM_001363880.1:c.1752del	NP_001350809.1:p.Val585Ter
NM_020166.4:c.2079del	NP_064551.3:p.Val694Ter
NR_120639.1:n.1943del
NR_120639.2:n.1852del
NR_120640.1:n.2626del
NR_120640.2:n.2626del
ENST00000265594.8:c.2079del	ENSP00000265594.4:p.Val694Ter
ENST00000464601.5:n.511del
ENST00000492597.5:c.1752del	ENSP00000419898.1:p.Val585Ter
ENST00000497830.5:c.*1676del	ENSP00000420088.1:n.*1676del
ENST00000497959.5:c.*540del	ENSP00000420648.1:n.*540del
ENST00000539926.5:c.1629del	ENSP00000441253.2:p.Val544Ter
ENST00000610757.4:c.1629del	ENSP00000480435.1:p.Val544Ter
ENST00000629669.2:c.*443del	ENSP00000486824.1:n.*443del
XM_006713702.1:c.1752del	XP_006713765.1:p.Val585Ter
XM_011512992.1:c.1965del	XP_011511294.1:p.Val656Ter
XM_011512992.2:c.1965del	XP_011511294.1:p.Val656Ter
XR_001740207.2:n.2299del
XR_001740208.2:n.2152del
XR_001740209.2:n.1905del
XR_001740210.1:n.1982del
XR_241502.2:n.2009del
XR_241502.3:n.1955del