Canonical Allele Identifier: CA3370007

Gene: MCC

Linked Data

• dbSNP Id: rs774999928
• ExAC: 5:112399728 GC / G
• gnomAD v2: 5-112399728-GC-G
• MyVariant Identifiers: chr5:g.112399729del (hg19) ; chr5:g.113064033del (hg38) ; chr5:g.113064032del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064033del , CM000667.2:g.113064033del	GRCh38
NC_000005.9:g.112399730del , CM000667.1:g.112399730del	GRCh37
NC_000005.8:g.112427629del	NCBI36
NG_012265.1:g.429799del

Transcript Alleles

HGVS	Amino-acid change
ENST00000302475.9:c.1595del	ENSP00000305617.4:p.Gly532AlafsTer?
ENST00000408903.7:c.2165del MANE Select	ENSP00000386227.3:p.Gly722AlafsTer?
ENST00000302475.8:c.1595del	ENSP00000305617.4:p.Gly532AlafsTer?
ENST00000408903.6:c.2165del	ENSP00000386227.3:p.Gly722AlafsTer?
ENST00000514701.5:c.1595del	ENSP00000485220.1:p.Gly532AlafsTer?
ENST00000515367.6:c.1406del	ENSP00000421615.2:p.Gly469AlafsTer?
ENST00000624689.3:c.9del
NM_001085377.1:c.2165del	NP_001078846.1:p.Gly722AlafsTer?
NM_002387.2:c.1595del	NP_002378.1:p.Gly532AlafsTer?
XM_005271991.2:c.1595del	XP_005272048.1:p.Gly532AlafsTer?
XM_005271991.3:c.1595del	XP_005272048.1:p.Gly532AlafsTer?
XM_017009473.1:c.2165del	XP_016864962.1:p.Gly722AlafsTer?
XM_017009474.1:c.1565del	XP_016864963.1:p.Gly522AlafsTer?
XM_024446049.1:c.1406del	XP_024301817.1:p.Gly469AlafsTer?
XM_024446050.1:c.1406del	XP_024301818.1:p.Gly469AlafsTer?
XM_024446051.1:c.1406del	XP_024301819.1:p.Gly469AlafsTer?
XM_024446052.1:c.1406del	XP_024301820.1:p.Gly469AlafsTer?
NM_001085377.2:c.2165del MANE Select	NP_001078846.2:p.Gly722AlafsTer?
NM_002387.3:c.1595del	NP_002378.2:p.Gly532AlafsTer?