Canonical Allele Identifier: CA2674882400

Gene: MCC

Linked Data

• gnomAD v4: 5-113064047-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064048_113064049insCC , CM000667.2:g.113064048_113064049insCC	GRCh38
NC_000005.9:g.112399745_112399746insCC , CM000667.1:g.112399745_112399746insCC	GRCh37
NC_000005.8:g.112427644_112427645insCC	NCBI36
NG_012265.1:g.429783_429784insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1579_1580insGG	ENSP00000305617.4:p.Ala527GlyfsTer?
ENST00000408903.7:c.2149_2150insGG MANE Select	ENSP00000386227.3:p.Ala717GlyfsTer?
ENST00000302475.8:c.1579_1580insGG	ENSP00000305617.4:p.Ala527GlyfsTer?
ENST00000408903.6:c.2149_2150insGG	ENSP00000386227.3:p.Ala717GlyfsTer?
ENST00000514701.5:c.1579_1580insGG	ENSP00000485220.1:p.Ala527GlyfsTer?
ENST00000515367.6:c.1390_1391insGG	ENSP00000421615.2:p.Ala464GlyfsTer?
NM_001085377.1:c.2149_2150insGG	NP_001078846.1:p.Ala717GlyfsTer?
NM_002387.2:c.1579_1580insGG	NP_002378.1:p.Ala527GlyfsTer?
XM_005271991.2:c.1579_1580insGG	XP_005272048.1:p.Ala527GlyfsTer?
XM_005271991.3:c.1579_1580insGG	XP_005272048.1:p.Ala527GlyfsTer?
XM_017009473.1:c.2149_2150insGG	XP_016864962.1:p.Ala717GlyfsTer?
XM_017009474.1:c.1549_1550insGG	XP_016864963.1:p.Ala517GlyfsTer?
XM_024446049.1:c.1390_1391insGG	XP_024301817.1:p.Ala464GlyfsTer?
XM_024446050.1:c.1390_1391insGG	XP_024301818.1:p.Ala464GlyfsTer?
XM_024446051.1:c.1390_1391insGG	XP_024301819.1:p.Ala464GlyfsTer?
XM_024446052.1:c.1390_1391insGG	XP_024301820.1:p.Ala464GlyfsTer?
NM_001085377.2:c.2149_2150insGG MANE Select	NP_001078846.2:p.Ala717GlyfsTer?
NM_002387.3:c.1579_1580insGG	NP_002378.2:p.Ala527GlyfsTer?