Canonical Allele Identifier: CA2674882404

Gene: MCC

Linked Data

• gnomAD v4: 5-113064152-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064157dup , CM000667.2:g.113064157dup	GRCh38
NC_000005.9:g.112399854dup , CM000667.1:g.112399854dup	GRCh37
NC_000005.8:g.112427753dup	NCBI36
NG_012265.1:g.429678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1474dup	ENSP00000305617.4:p.Asp492GlyfsTer2
ENST00000408903.7:c.2044dup MANE Select	ENSP00000386227.3:p.Asp682GlyfsTer2
ENST00000302475.8:c.1474dup	ENSP00000305617.4:p.Asp492GlyfsTer2
ENST00000408903.6:c.2044dup	ENSP00000386227.3:p.Asp682GlyfsTer2
ENST00000514701.5:c.1474dup	ENSP00000485220.1:p.Asp492GlyfsTer2
ENST00000515367.6:c.1285dup	ENSP00000421615.2:p.Asp429GlyfsTer2
NM_001085377.1:c.2044dup	NP_001078846.1:p.Asp682GlyfsTer2
NM_002387.2:c.1474dup	NP_002378.1:p.Asp492GlyfsTer2
XM_005271991.2:c.1474dup	XP_005272048.1:p.Asp492GlyfsTer2
XM_005271991.3:c.1474dup	XP_005272048.1:p.Asp492GlyfsTer2
XM_017009473.1:c.2044dup	XP_016864962.1:p.Asp682GlyfsTer2
XM_017009474.1:c.1444dup	XP_016864963.1:p.Asp482GlyfsTer2
XM_024446049.1:c.1285dup	XP_024301817.1:p.Asp429GlyfsTer2
XM_024446050.1:c.1285dup	XP_024301818.1:p.Asp429GlyfsTer2
XM_024446051.1:c.1285dup	XP_024301819.1:p.Asp429GlyfsTer2
XM_024446052.1:c.1285dup	XP_024301820.1:p.Asp429GlyfsTer2
NM_001085377.2:c.2044dup MANE Select	NP_001078846.2:p.Asp682GlyfsTer2
NM_002387.3:c.1474dup	NP_002378.2:p.Asp492GlyfsTer2