Canonical Allele Identifier: CA1080235450

Gene: MCC

Linked Data

• dbSNP Id: rs1753371342
• gnomAD v3: 5-113063591-TGGGACCAGA-T
• gnomAD v4: 5-113063591-TGGGACCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113063599_113063607del , CM000667.2:g.113063599_113063607del	GRCh38
NC_000005.9:g.112399296_112399304del , CM000667.1:g.112399296_112399304del	GRCh37
NC_000005.8:g.112427195_112427203del	NCBI36
NG_012265.1:g.430231_430239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1643+384_1643+392del	ENSP00000305617.4:n.1643+384_1643+392del
ENST00000408903.7:c.2213+384_2213+392del MANE Select	ENSP00000386227.3:n.2213+384_2213+392del
ENST00000302475.8:c.1643+384_1643+392del	ENSP00000305617.4:n.1643+384_1643+392del
ENST00000408903.6:c.2213+384_2213+392del	ENSP00000386227.3:n.2213+384_2213+392del
ENST00000514701.5:c.1643+384_1643+392del	ENSP00000485220.1:n.1643+384_1643+392del
ENST00000515367.6:c.1454+384_1454+392del	ENSP00000421615.2:n.1454+384_1454+392del
ENST00000624689.3:c.57+384_57+392del
NM_001085377.1:c.2213+384_2213+392del	NP_001078846.1:n.2213+384_2213+392del
NM_002387.2:c.1643+384_1643+392del	NP_002378.1:n.1643+384_1643+392del
XM_005271991.2:c.1643+384_1643+392del	XP_005272048.1:n.1643+384_1643+392del
XM_005271991.3:c.1643+384_1643+392del	XP_005272048.1:n.1643+384_1643+392del
XM_017009473.1:c.2213+384_2213+392del	XP_016864962.1:n.2213+384_2213+392del
XM_017009474.1:c.1613+384_1613+392del	XP_016864963.1:n.1613+384_1613+392del
XM_024446049.1:c.1454+384_1454+392del	XP_024301817.1:n.1454+384_1454+392del
XM_024446050.1:c.1454+384_1454+392del	XP_024301818.1:n.1454+384_1454+392del
XM_024446051.1:c.1454+384_1454+392del	XP_024301819.1:n.1454+384_1454+392del
XM_024446052.1:c.1454+384_1454+392del	XP_024301820.1:n.1454+384_1454+392del
NM_001085377.2:c.2213+384_2213+392del MANE Select	NP_001078846.2:n.2213+384_2213+392del
NM_002387.3:c.1643+384_1643+392del	NP_002378.2:n.1643+384_1643+392del