Canonical Allele Identifier: CA2718834

Gene: MCCC1

Linked Data

• dbSNP Id: rs755728281
• ExAC: 3:182756969 G / GAATAAAAT
• gnomAD v2: 3-182756969-G-GAATAAAAT
• gnomAD v4: 3-183039181-G-GAATAAAAT
• MyVariant Identifiers: chr3:g.182756969_182756970insAATAAAAT (hg19) ; chr3:g.183039181_183039182insAATAAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039183_183039190dup , CM000665.2:g.183039183_183039190dup	GRCh38
NC_000003.11:g.182756971_182756978dup , CM000665.1:g.182756971_182756978dup	GRCh37
NC_000003.10:g.184239665_184239672dup	NCBI36
NG_008100.1:g.65389_65396dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1268-54_1268-47dup MANE Select	ENSP00000265594.4:n.1268-54_1268-47dup
ENST00000265594.8:c.1268-54_1268-47dup	ENSP00000265594.4:n.1268-54_1268-47dup
ENST00000476176.5:c.1127-54_1127-47dup	ENSP00000420433.1:n.1127-54_1127-47dup
ENST00000492597.5:c.941-54_941-47dup	ENSP00000419898.1:n.941-54_941-47dup
ENST00000495767.5:c.*849-54_*849-47dup	ENSP00000419658.1:n.*849-54_*849-47dup
ENST00000497830.5:c.*865-54_*865-47dup	ENSP00000420088.1:n.*865-54_*865-47dup
ENST00000497959.5:c.1154-54_1154-47dup	ENSP00000420648.1:n.1154-54_1154-47dup
ENST00000539926.5:c.818-54_818-47dup	ENSP00000441253.2:n.818-54_818-47dup
ENST00000610757.4:c.818-54_818-47dup	ENSP00000480435.1:n.818-54_818-47dup
ENST00000629669.2:c.1154-54_1154-47dup	ENSP00000486824.1:n.1154-54_1154-47dup
NM_001293273.1:c.917-54_917-47dup	NP_001280202.1:n.917-54_917-47dup
NM_020166.4:c.1268-54_1268-47dup	NP_064551.3:n.1268-54_1268-47dup
NR_120639.1:n.1182-54_1182-47dup
NR_120640.1:n.1935-54_1935-47dup
XM_006713702.1:c.941-54_941-47dup	XP_006713765.1:n.941-54_941-47dup
XM_011512992.1:c.1154-54_1154-47dup	XP_011511294.1:n.1154-54_1154-47dup
XM_011512993.1:c.1268-54_1268-47dup	XP_011511295.1:n.1268-54_1268-47dup
XR_241502.2:n.1415-54_1415-47dup
XR_924159.1:n.1415-54_1415-47dup
NM_001363880.1:c.941-54_941-47dup	NP_001350809.1:n.941-54_941-47dup
XM_011512992.2:c.1154-54_1154-47dup	XP_011511294.1:n.1154-54_1154-47dup
XR_001740207.2:n.1391-54_1391-47dup
XR_001740208.2:n.1391-54_1391-47dup
XR_001740209.2:n.1361-54_1361-47dup
XR_001740210.1:n.1221-54_1221-47dup
XR_002959553.1:n.1391-54_1391-47dup
XR_002959554.1:n.1391-54_1391-47dup
XR_241502.3:n.1361-54_1361-47dup
NM_020166.5:c.1268-54_1268-47dup MANE Select	NP_064551.3:n.1268-54_1268-47dup
NM_001293273.2:c.917-54_917-47dup	NP_001280202.1:n.917-54_917-47dup
NR_120639.2:n.1091-54_1091-47dup
NR_120640.2:n.1935-54_1935-47dup