Canonical Allele Identifier: CA2578380796

Gene: MCC

Linked Data

• gnomAD v4: 5-113064083-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064085dup , CM000667.2:g.113064085dup	GRCh38
NC_000005.9:g.112399782dup , CM000667.1:g.112399782dup	GRCh37
NC_000005.8:g.112427681dup	NCBI36
NG_012265.1:g.429747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1543dup	ENSP00000305617.4:p.Ala515GlyfsTer?
ENST00000408903.7:c.2113dup MANE Select	ENSP00000386227.3:p.Ala705GlyfsTer?
ENST00000302475.8:c.1543dup	ENSP00000305617.4:p.Ala515GlyfsTer?
ENST00000408903.6:c.2113dup	ENSP00000386227.3:p.Ala705GlyfsTer?
ENST00000514701.5:c.1543dup	ENSP00000485220.1:p.Ala515GlyfsTer?
ENST00000515367.6:c.1354dup	ENSP00000421615.2:p.Ala452GlyfsTer?
NM_001085377.1:c.2113dup	NP_001078846.1:p.Ala705GlyfsTer?
NM_002387.2:c.1543dup	NP_002378.1:p.Ala515GlyfsTer?
XM_005271991.2:c.1543dup	XP_005272048.1:p.Ala515GlyfsTer?
XM_005271991.3:c.1543dup	XP_005272048.1:p.Ala515GlyfsTer?
XM_017009473.1:c.2113dup	XP_016864962.1:p.Ala705GlyfsTer?
XM_017009474.1:c.1513dup	XP_016864963.1:p.Ala505GlyfsTer?
XM_024446049.1:c.1354dup	XP_024301817.1:p.Ala452GlyfsTer?
XM_024446050.1:c.1354dup	XP_024301818.1:p.Ala452GlyfsTer?
XM_024446051.1:c.1354dup	XP_024301819.1:p.Ala452GlyfsTer?
XM_024446052.1:c.1354dup	XP_024301820.1:p.Ala452GlyfsTer?
NM_001085377.2:c.2113dup MANE Select	NP_001078846.2:p.Ala705GlyfsTer?
NM_002387.3:c.1543dup	NP_002378.2:p.Ala515GlyfsTer?