Canonical Allele Identifier: CA3369999

Gene: MCC

Linked Data

• dbSNP Id: rs769485796
• ExAC: 5:112399699 GAAAGGCTCTCCCAGGGCTGCACGCTGCAGCCGGCCACGGC / G
• gnomAD v2: 5-112399699-GAAAGGCTCTCCCAGGGCTGCACGCTGCAGCCGGCCACGGC-G
• gnomAD v4: 5-113064002-GAAAGGCTCTCCCAGGGCTGCACGCTGCAGCCGGCCACGGC-G
• MyVariant Identifiers: chr5:g.112399700_112399739del (hg19) ; chr5:g.113064003_113064042del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064011_113064050del , CM000667.2:g.113064011_113064050del	GRCh38
NC_000005.9:g.112399708_112399747del , CM000667.1:g.112399708_112399747del	GRCh37
NC_000005.8:g.112427607_112427646del	NCBI36
NG_012265.1:g.429789_429828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1585_1624del	ENSP00000305617.4:p.Ala529ProfsTer28
ENST00000408903.7:c.2155_2194del MANE Select	ENSP00000386227.3:p.Ala719ProfsTer28
ENST00000302475.8:c.1585_1624del	ENSP00000305617.4:p.Ala529ProfsTer28
ENST00000408903.6:c.2155_2194del	ENSP00000386227.3:p.Ala719ProfsTer28
ENST00000514701.5:c.1585_1624del	ENSP00000485220.1:p.Ala529ProfsTer28
ENST00000515367.6:c.1396_1435del	ENSP00000421615.2:p.Ala466ProfsTer28
NM_001085377.1:c.2155_2194del	NP_001078846.1:p.Ala719ProfsTer28
NM_002387.2:c.1585_1624del	NP_002378.1:p.Ala529ProfsTer28
XM_005271991.2:c.1585_1624del	XP_005272048.1:p.Ala529ProfsTer28
XM_005271991.3:c.1585_1624del	XP_005272048.1:p.Ala529ProfsTer28
XM_017009473.1:c.2155_2194del	XP_016864962.1:p.Ala719ProfsTer28
XM_017009474.1:c.1555_1594del	XP_016864963.1:p.Ala519ProfsTer28
XM_024446049.1:c.1396_1435del	XP_024301817.1:p.Ala466ProfsTer28
XM_024446050.1:c.1396_1435del	XP_024301818.1:p.Ala466ProfsTer28
XM_024446051.1:c.1396_1435del	XP_024301819.1:p.Ala466ProfsTer28
XM_024446052.1:c.1396_1435del	XP_024301820.1:p.Ala466ProfsTer28
NM_001085377.2:c.2155_2194del MANE Select	NP_001078846.2:p.Ala719ProfsTer28
NM_002387.3:c.1585_1624del	NP_002378.2:p.Ala529ProfsTer28