Canonical Allele Identifier: CA2674165917

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71635415-C-CAGTAAGGAGTGACATATGTGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635416_71635417insGTAAGGAGTGACATATGTGGCAA , CM000667.2:g.71635416_71635417insGTAAGGAGTGACATATGTGGCAA	GRCh38
NC_000005.9:g.70931243_70931244insGTAAGGAGTGACATATGTGGCAA , CM000667.1:g.70931243_70931244insGTAAGGAGTGACATATGTGGCAA	GRCh37
NC_000005.8:g.70966999_70967000insGTAAGGAGTGACATATGTGGCAA	NCBI36
NG_008882.1:g.53129_53130insGTAAGGAGTGACATATGTGGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.955+170_955+171insGTAAGGAGTGACATATGTGGCAA
ENST00000505787.8:n.2839+170_2839+171insGTAAGGAGTGACATATGTGGCAA
ENST00000509358.7:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000420994.3:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000509539.3:c.261+170_261+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000425474.3:n.261+170_261+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000510895.7:n.1292_1293insGTAAGGAGTGACATATGTGGCAA
ENST00000629193.3:c.885+170_885+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000486535.2:n.885+170_885+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000681968.1:c.492+170_492+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000508143.1:n.492+170_492+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000682045.1:c.855+170_855+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507329.1:n.855+170_855+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000682214.1:c.606+170_606+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507336.1:n.606+170_606+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000682499.1:n.1820+170_1820+171insGTAAGGAGTGACATATGTGGCAA
ENST00000682541.1:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507673.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000682687.1:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507945.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000682727.1:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507393.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000682876.1:c.1128+170_1128+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000508389.1:n.1128+170_1128+171insGTAAGGAGTGACATATGTGGC...
ENST00000683098.1:c.803+3231_803+3232insGTAAGGAGTGACATATGTGGCAA	ENSP00000507670.1:n.803+3231_803+3232insGTAAGGAGTGACATATGTGGC...
ENST00000683258.1:c.*720+170_*720+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507448.1:n.*720+170_*720+171insGTAAGGAGTGACATATGTGGC...
ENST00000683339.1:c.783+170_783+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507758.1:n.783+170_783+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000683403.1:c.909+170_909+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507896.1:n.909+170_909+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000683429.1:c.606+170_606+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507697.1:n.606+170_606+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000683665.1:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507068.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000683789.1:c.885+170_885+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507012.1:n.885+170_885+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000683847.1:n.843+170_843+171insGTAAGGAGTGACATATGTGGCAA
ENST00000683882.1:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000506735.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000684024.1:c.*670+170_*670+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507175.1:n.*670+170_*670+171insGTAAGGAGTGACATATGTGGC...
ENST00000684254.1:c.*725+170_*725+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000508001.1:n.*725+170_*725+171insGTAAGGAGTGACATATGTGGC...
ENST00000684310.1:c.165+374_165+375insGTAAGGAGTGACATATGTGGCAA	ENSP00000507550.1:n.165+374_165+375insGTAAGGAGTGACATATGTGGCAA...
ENST00000684530.1:c.261+170_261+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000507439.1:n.261+170_261+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000684652.1:n.2171_2172insGTAAGGAGTGACATATGTGGCAA
ENST00000340941.11:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA MANE Select	ENSP00000343657.6:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000340941.10:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000343657.6:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000505435.3:n.350+170_350+171insGTAAGGAGTGACATATGTGGCAA
ENST00000509358.6:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000420994.2:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000509539.2:c.324+170_324+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000425474.2:n.324+170_324+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000510895.6:n.783_784insGTAAGGAGTGACATATGTGGCAA
ENST00000512218.6:c.885+170_885+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000423202.2:n.885+170_885+171insGTAAGGAGTGACATATGTGGCAA...
ENST00000629193.2:c.885+170_885+171insGTAAGGAGTGACATATGTGGCAA	ENSP00000486535.1:n.885+170_885+171insGTAAGGAGTGACATATGTGGCAA...
NM_022132.4:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	NP_071415.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA
XM_005248567.1:c.885+170_885+171insGTAAGGAGTGACATATGTGGCAA	XP_005248624.1:n.885+170_885+171insGTAAGGAGTGACATATGTGGCAA
XM_011543528.1:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	XP_011541830.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA
XM_011543529.1:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	XP_011541831.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA
NM_001363147.1:c.885+170_885+171insGTAAGGAGTGACATATGTGGCAA	NP_001350076.1:n.885+170_885+171insGTAAGGAGTGACATATGTGGCAA
XM_011543529.2:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	XP_011541831.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA
XM_017009688.1:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA	XP_016865177.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA
XR_001742172.1:n.1039+170_1039+171insGTAAGGAGTGACATATGTGGCAA
NM_022132.5:c.999+170_999+171insGTAAGGAGTGACATATGTGGCAA MANE Select	NP_071415.1:n.999+170_999+171insGTAAGGAGTGACATATGTGGCAA