Canonical Allele Identifier: CA2668715769

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183039022-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039025_183039026del , CM000665.2:g.183039025_183039026del	GRCh38
NC_000003.11:g.182756813_182756814del , CM000665.1:g.182756813_182756814del	GRCh37
NC_000003.10:g.184239507_184239508del	NCBI36
NG_008100.1:g.65554_65555del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1377+2_1377+3del
ENST00000265594.8:c.1377+2_1377+3del
ENST00000476176.5:c.1236+2_1236+3del
ENST00000492597.5:c.1050+2_1050+3del
ENST00000495767.5:c.*958+2_*958+3del
ENST00000497830.5:c.*974+2_*974+3del
ENST00000497959.5:c.1263+2_1263+3del
ENST00000539926.5:c.927+2_927+3del
ENST00000610757.4:c.927+2_927+3del
ENST00000629669.2:c.1263+2_1263+3del
NM_001293273.1:c.1026+2_1026+3del
NM_020166.4:c.1377+2_1377+3del
NR_120639.1:n.1291+2_1291+3del
NR_120640.1:n.2044+2_2044+3del
XM_006713702.1:c.1050+2_1050+3del
XM_011512992.1:c.1263+2_1263+3del
XM_011512993.1:c.1377+2_1377+3del
XR_241502.2:n.1524+2_1524+3del
XR_924159.1:n.1524+2_1524+3del
NM_001363880.1:c.1050+2_1050+3del
XM_011512992.2:c.1263+2_1263+3del
XR_001740207.2:n.1500+2_1500+3del
XR_001740208.2:n.1500+2_1500+3del
XR_001740209.2:n.1470+2_1470+3del
XR_001740210.1:n.1330+2_1330+3del
XR_002959553.1:n.1500+2_1500+3del
XR_002959554.1:n.1500+2_1500+3del
XR_241502.3:n.1470+2_1470+3del
NM_020166.5:c.1377+2_1377+3del
NM_001293273.2:c.1026+2_1026+3del
NR_120639.2:n.1200+2_1200+3del
NR_120640.2:n.2044+2_2044+3del