Canonical Allele Identifier: CA903589333

Gene: MCCC1

Linked Data

• dbSNP Id: rs1404943197
• gnomAD v3: 3-183039374-ACAAGCTGGCTT-A
• gnomAD v4: 3-183039374-ACAAGCTGGCTT-A
• MyVariant Identifiers: chr3:g.182757163_182757173del (hg19) ; chr3:g.183039375_183039385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039375_183039385del , CM000665.2:g.183039375_183039385del	GRCh38
NC_000003.11:g.182757163_182757173del , CM000665.1:g.182757163_182757173del	GRCh37
NC_000003.10:g.184239857_184239867del	NCBI36
NG_008100.1:g.65193_65203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1268-250_1268-240del MANE Select	ENSP00000265594.4:n.1268-250_1268-240del
ENST00000265594.8:c.1268-250_1268-240del	ENSP00000265594.4:n.1268-250_1268-240del
ENST00000476176.5:c.1127-250_1127-240del	ENSP00000420433.1:n.1127-250_1127-240del
ENST00000492597.5:c.941-250_941-240del	ENSP00000419898.1:n.941-250_941-240del
ENST00000495767.5:c.*849-250_*849-240del	ENSP00000419658.1:n.*849-250_*849-240del
ENST00000497830.5:c.*865-250_*865-240del	ENSP00000420088.1:n.*865-250_*865-240del
ENST00000497959.5:c.1154-250_1154-240del	ENSP00000420648.1:n.1154-250_1154-240del
ENST00000539926.5:c.818-250_818-240del	ENSP00000441253.2:n.818-250_818-240del
ENST00000610757.4:c.818-250_818-240del	ENSP00000480435.1:n.818-250_818-240del
ENST00000629669.2:c.1154-250_1154-240del	ENSP00000486824.1:n.1154-250_1154-240del
NM_001293273.1:c.917-250_917-240del	NP_001280202.1:n.917-250_917-240del
NM_020166.4:c.1268-250_1268-240del	NP_064551.3:n.1268-250_1268-240del
NR_120639.1:n.1182-250_1182-240del
NR_120640.1:n.1935-250_1935-240del
XM_006713702.1:c.941-250_941-240del	XP_006713765.1:n.941-250_941-240del
XM_011512992.1:c.1154-250_1154-240del	XP_011511294.1:n.1154-250_1154-240del
XM_011512993.1:c.1268-250_1268-240del	XP_011511295.1:n.1268-250_1268-240del
XR_241502.2:n.1415-250_1415-240del
XR_924159.1:n.1415-250_1415-240del
NM_001363880.1:c.941-250_941-240del	NP_001350809.1:n.941-250_941-240del
XM_011512992.2:c.1154-250_1154-240del	XP_011511294.1:n.1154-250_1154-240del
XR_001740207.2:n.1391-250_1391-240del
XR_001740208.2:n.1391-250_1391-240del
XR_001740209.2:n.1361-250_1361-240del
XR_001740210.1:n.1221-250_1221-240del
XR_002959553.1:n.1391-250_1391-240del
XR_002959554.1:n.1391-250_1391-240del
XR_241502.3:n.1361-250_1361-240del
NM_020166.5:c.1268-250_1268-240del MANE Select	NP_064551.3:n.1268-250_1268-240del
NM_001293273.2:c.917-250_917-240del	NP_001280202.1:n.917-250_917-240del
NR_120639.2:n.1091-250_1091-240del
NR_120640.2:n.1935-250_1935-240del