Canonical Allele Identifier: CA1080250998

Gene: MCC

Linked Data

• gnomAD v3: 5-113119702-GAA-G
• gnomAD v4: 5-113119702-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113119712_113119713del , CM000667.2:g.113119712_113119713del	GRCh38
NC_000005.9:g.112455409_112455410del , CM000667.1:g.112455409_112455410del	GRCh37
NC_000005.8:g.112483308_112483309del	NCBI36
NG_012265.1:g.374127_374128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.457+2980_457+2981del	ENSP00000305617.4:n.457+2980_457+2981del
ENST00000408903.7:c.1027+2980_1027+2981del MANE Select	ENSP00000386227.3:n.1027+2980_1027+2981del
ENST00000302475.8:c.457+2980_457+2981del	ENSP00000305617.4:n.457+2980_457+2981del
ENST00000408903.6:c.1027+2980_1027+2981del	ENSP00000386227.3:n.1027+2980_1027+2981del
ENST00000502648.5:n.147+2980_147+2981del
ENST00000506605.6:n.481+2980_481+2981del
ENST00000511847.2:n.464+2980_464+2981del
ENST00000514701.5:c.457+2980_457+2981del	ENSP00000485220.1:n.457+2980_457+2981del
ENST00000515367.6:c.268+2980_268+2981del	ENSP00000421615.2:n.268+2980_268+2981del
NM_001085377.1:c.1027+2980_1027+2981del	NP_001078846.1:n.1027+2980_1027+2981del
NM_002387.2:c.457+2980_457+2981del	NP_002378.1:n.457+2980_457+2981del
XM_005271991.2:c.457+2980_457+2981del	XP_005272048.1:n.457+2980_457+2981del
XM_005271991.3:c.457+2980_457+2981del	XP_005272048.1:n.457+2980_457+2981del
XM_017009473.1:c.1027+2980_1027+2981del	XP_016864962.1:n.1027+2980_1027+2981del
XM_017009474.1:c.427+2980_427+2981del	XP_016864963.1:n.427+2980_427+2981del
XM_024446049.1:c.268+2980_268+2981del	XP_024301817.1:n.268+2980_268+2981del
XM_024446050.1:c.268+2980_268+2981del	XP_024301818.1:n.268+2980_268+2981del
XM_024446051.1:c.268+2980_268+2981del	XP_024301819.1:n.268+2980_268+2981del
XM_024446052.1:c.268+2980_268+2981del	XP_024301820.1:n.268+2980_268+2981del
NM_001085377.2:c.1027+2980_1027+2981del MANE Select	NP_001078846.2:n.1027+2980_1027+2981del
NM_002387.3:c.457+2980_457+2981del	NP_002378.2:n.457+2980_457+2981del