Canonical Allele Identifier: CA2674882402

Gene: MCC

Linked Data

• gnomAD v4: 5-113064142-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064143_113064144del , CM000667.2:g.113064143_113064144del	GRCh38
NC_000005.9:g.112399840_112399841del , CM000667.1:g.112399840_112399841del	GRCh37
NC_000005.8:g.112427739_112427740del	NCBI36
NG_012265.1:g.429687_429688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1483_1484del	ENSP00000305617.4:p.Ile495HisfsTer9
ENST00000408903.7:c.2053_2054del MANE Select	ENSP00000386227.3:p.Ile685HisfsTer9
ENST00000302475.8:c.1483_1484del	ENSP00000305617.4:p.Ile495HisfsTer9
ENST00000408903.6:c.2053_2054del	ENSP00000386227.3:p.Ile685HisfsTer9
ENST00000514701.5:c.1483_1484del	ENSP00000485220.1:p.Ile495HisfsTer9
ENST00000515367.6:c.1294_1295del	ENSP00000421615.2:p.Ile432HisfsTer9
NM_001085377.1:c.2053_2054del	NP_001078846.1:p.Ile685HisfsTer9
NM_002387.2:c.1483_1484del	NP_002378.1:p.Ile495HisfsTer9
XM_005271991.2:c.1483_1484del	XP_005272048.1:p.Ile495HisfsTer9
XM_005271991.3:c.1483_1484del	XP_005272048.1:p.Ile495HisfsTer9
XM_017009473.1:c.2053_2054del	XP_016864962.1:p.Ile685HisfsTer9
XM_017009474.1:c.1453_1454del	XP_016864963.1:p.Ile485HisfsTer9
XM_024446049.1:c.1294_1295del	XP_024301817.1:p.Ile432HisfsTer9
XM_024446050.1:c.1294_1295del	XP_024301818.1:p.Ile432HisfsTer9
XM_024446051.1:c.1294_1295del	XP_024301819.1:p.Ile432HisfsTer9
XM_024446052.1:c.1294_1295del	XP_024301820.1:p.Ile432HisfsTer9
NM_001085377.2:c.2053_2054del MANE Select	NP_001078846.2:p.Ile685HisfsTer9
NM_002387.3:c.1483_1484del	NP_002378.2:p.Ile495HisfsTer9