Canonical Allele Identifier: CA2718606

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 498130
• ClinVar RCV Id: RCV000591068 ; RCV000726783
• dbSNP Id: rs776641008
• ExAC: 3:182737889 ACATCATTCTACAGATGTCATGTGATTACCTTTT / A
• gnomAD v2: 3-182737889-ACATCATTCTACAGATGTCATGTGATTACCTTTT-A
• MyVariant Identifiers: chr3:g.182737890_182737922del (hg19) ; chr3:g.183020102_183020134del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183020104_183020136del , CM000665.2:g.183020104_183020136del	GRCh38
NC_000003.11:g.182737892_182737924del , CM000665.1:g.182737892_182737924del	GRCh37
NC_000003.10:g.184220586_184220618del	NCBI36
NG_008100.1:g.84444_84476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1973_1977+28del
ENST00000265594.8:c.1973_1977+28del
ENST00000464601.5:n.405_409+28del
ENST00000492597.5:c.1646_1650+28del
ENST00000495767.5:c.*1504_*1508+28del
ENST00000497830.5:c.*1570_*1574+28del
ENST00000497959.5:c.*434_*438+28del
ENST00000539926.5:c.1523_1527+28del
ENST00000610757.4:c.1523_1527+28del
ENST00000629669.2:c.*337_*341+28del
NM_001293273.1:c.1622_1626+28del
NM_020166.4:c.1973_1977+28del
NR_120639.1:n.1837_1841+28del
NR_120640.1:n.2520_2524+28del
XM_006713702.1:c.1646_1650+28del
XM_011512992.1:c.1859_1863+28del
XR_241502.2:n.1903_1907+28del
NM_001363880.1:c.1646_1650+28del
XM_011512992.2:c.1859_1863+28del
XR_001740207.2:n.2193_2197+28del
XR_001740208.2:n.2046_2050+28del
XR_001740209.2:n.1799_1803+28del
XR_001740210.1:n.1876_1880+28del
XR_241502.3:n.1849_1853+28del
NM_020166.5:c.1973_1977+28del
NM_001293273.2:c.1622_1626+28del
NR_120639.2:n.1746_1750+28del
NR_120640.2:n.2520_2524+28del