Canonical Allele Identifier: CA2674882401

Gene: MCC

Linked Data

• gnomAD v4: 5-113064055-ACAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064056_113064059del , CM000667.2:g.113064056_113064059del	GRCh38
NC_000005.9:g.112399753_112399756del , CM000667.1:g.112399753_112399756del	GRCh37
NC_000005.8:g.112427652_112427655del	NCBI36
NG_012265.1:g.429772_429775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1568_1571del	ENSP00000305617.4:p.Ser523MetfsTer?
ENST00000408903.7:c.2138_2141del MANE Select	ENSP00000386227.3:p.Ser713MetfsTer?
ENST00000302475.8:c.1568_1571del	ENSP00000305617.4:p.Ser523MetfsTer?
ENST00000408903.6:c.2138_2141del	ENSP00000386227.3:p.Ser713MetfsTer?
ENST00000514701.5:c.1568_1571del	ENSP00000485220.1:p.Ser523MetfsTer?
ENST00000515367.6:c.1379_1382del	ENSP00000421615.2:p.Ser460MetfsTer?
NM_001085377.1:c.2138_2141del	NP_001078846.1:p.Ser713MetfsTer?
NM_002387.2:c.1568_1571del	NP_002378.1:p.Ser523MetfsTer?
XM_005271991.2:c.1568_1571del	XP_005272048.1:p.Ser523MetfsTer?
XM_005271991.3:c.1568_1571del	XP_005272048.1:p.Ser523MetfsTer?
XM_017009473.1:c.2138_2141del	XP_016864962.1:p.Ser713MetfsTer?
XM_017009474.1:c.1538_1541del	XP_016864963.1:p.Ser513MetfsTer?
XM_024446049.1:c.1379_1382del	XP_024301817.1:p.Ser460MetfsTer?
XM_024446050.1:c.1379_1382del	XP_024301818.1:p.Ser460MetfsTer?
XM_024446051.1:c.1379_1382del	XP_024301819.1:p.Ser460MetfsTer?
XM_024446052.1:c.1379_1382del	XP_024301820.1:p.Ser460MetfsTer?
NM_001085377.2:c.2138_2141del MANE Select	NP_001078846.2:p.Ser713MetfsTer?
NM_002387.3:c.1568_1571del	NP_002378.2:p.Ser523MetfsTer?