Canonical Allele Identifier: CA658657354

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 476393
• ClinVar RCV Id: RCV000530709 ; RCV002275089 ; RCV002526734
• dbSNP Id: rs1553868919

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183094564_183094565delinsAA , CM000665.2:g.183094564_183094565delinsAA	GRCh38
NC_000003.11:g.182812352_182812353delinsAA , CM000665.1:g.182812352_182812353delinsAA	GRCh37
NC_000003.10:g.184295046_184295047delinsAA	NCBI36
NG_008100.1:g.10013_10014delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.130_131delinsTT MANE Select	ENSP00000265594.4:p.Ala44Phe
ENST00000265594.8:c.130_131delinsTT	ENSP00000265594.4:p.Ala44Phe
ENST00000466650.5:c.130_131delinsTT	ENSP00000418979.1:p.Ala44Phe
ENST00000473955.1:n.43_44delinsTT
ENST00000476176.5:c.130_131delinsTT	ENSP00000420433.1:p.Ala44Phe
ENST00000486226.1:c.130_131delinsTT	ENSP00000420223.1:p.Ala44Phe
ENST00000487634.5:c.130_131delinsTT	ENSP00000420591.1:p.Ala44Phe
ENST00000490284.5:c.89+4787_89+4788delinsTT	ENSP00000419328.1:n.89+4787_89+4788delinsTT
ENST00000492597.5:c.-61_-60delinsTT	ENSP00000419898.1:n.-61_-60delinsTT
ENST00000495767.5:c.130_131delinsTT	ENSP00000419658.1:p.Ala44Phe
ENST00000497830.5:c.130_131delinsTT	ENSP00000420088.1:p.Ala44Phe
ENST00000497959.5:c.16_17delinsTT	ENSP00000420648.1:p.Ala6Phe
ENST00000539926.5:c.-61_-60delinsTT	ENSP00000441253.2:n.-61_-60delinsTT
ENST00000610757.4:c.-198_-197delinsTT	ENSP00000480435.1:n.-198_-197delinsTT
ENST00000629669.2:c.16_17delinsTT	ENSP00000486824.1:p.Ala6Phe
NM_001293273.1:c.38_39delinsTT	NP_001280202.1:p.Ser13Ile
NM_020166.4:c.130_131delinsTT	NP_064551.3:p.Ala44Phe
NR_120639.1:n.277_278delinsTT
NR_120640.1:n.797_798delinsTT
XM_006713702.1:c.-61_-60delinsTT	XP_006713765.1:n.-61_-60delinsTT
XM_011512992.1:c.16_17delinsTT	XP_011511294.1:p.Ala6Phe
XM_011512993.1:c.130_131delinsTT	XP_011511295.1:p.Ala44Phe
XR_241502.2:n.277_278delinsTT
XR_924159.1:n.277_278delinsTT
NM_001363880.1:c.-61_-60delinsTT	NP_001350809.1:n.-61_-60delinsTT
XM_011512992.2:c.16_17delinsTT	XP_011511294.1:p.Ala6Phe
XR_001740207.2:n.253_254delinsTT
XR_001740208.2:n.253_254delinsTT
XR_001740209.2:n.223_224delinsTT
XR_001740210.1:n.220_221delinsTT
XR_002959553.1:n.253_254delinsTT
XR_002959554.1:n.253_254delinsTT
XR_241502.3:n.223_224delinsTT
NM_020166.5:c.130_131delinsTT MANE Select	NP_064551.3:p.Ala44Phe
NM_001293273.2:c.38_39delinsTT	NP_001280202.1:p.Ser13Ile
NR_120639.2:n.186_187delinsTT
NR_120640.2:n.797_798delinsTT