Canonical Allele Identifier: CA561912508

Gene: MCC

Linked Data

• dbSNP Id: rs549603247
• gnomAD v2: 5-112455399-G-GA
• gnomAD v3: 5-113119702-G-GA
• gnomAD v4: 5-113119702-G-GA
• MyVariant Identifiers: chr5:g.112455400_112455401insA (hg19) ; chr5:g.112455399_112455400insA (hg19) ; chr5:g.113119703_113119704insA (hg38) ; chr5:g.113119702_113119703insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113119713dup , CM000667.2:g.113119713dup	GRCh38
NC_000005.9:g.112455410dup , CM000667.1:g.112455410dup	GRCh37
NC_000005.8:g.112483309dup	NCBI36
NG_012265.1:g.374128dup

Transcript Alleles

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