Canonical Allele Identifier: CA917081331

Gene: MCCC1

Linked Data

• dbSNP Id: rs201961767
• gnomAD v3: 3-183042118-AT-A
• gnomAD v4: 3-183042118-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183042126del , CM000665.2:g.183042126del	GRCh38
NC_000003.11:g.182759914del , CM000665.1:g.182759914del	GRCh37
NC_000003.10:g.184242608del	NCBI36
NG_008100.1:g.62459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1084-369del MANE Select	ENSP00000265594.4:n.1084-369del
ENST00000265594.8:c.1084-369del	ENSP00000265594.4:n.1084-369del
ENST00000476176.5:c.943-369del	ENSP00000420433.1:n.943-369del
ENST00000492597.5:c.757-369del	ENSP00000419898.1:n.757-369del
ENST00000495767.5:c.*665-369del	ENSP00000419658.1:n.*665-369del
ENST00000497830.5:c.*681-369del	ENSP00000420088.1:n.*681-369del
ENST00000497959.5:c.970-369del	ENSP00000420648.1:n.970-369del
ENST00000539926.5:c.634-369del	ENSP00000441253.2:n.634-369del
ENST00000610757.4:c.634-369del	ENSP00000480435.1:n.634-369del
ENST00000629669.2:c.970-369del	ENSP00000486824.1:n.970-369del
NM_001293273.1:c.733-369del	NP_001280202.1:n.733-369del
NM_020166.4:c.1084-369del	NP_064551.3:n.1084-369del
NR_120639.1:n.998-369del
NR_120640.1:n.1751-369del
XM_006713702.1:c.757-369del	XP_006713765.1:n.757-369del
XM_011512992.1:c.970-369del	XP_011511294.1:n.970-369del
XM_011512993.1:c.1084-369del	XP_011511295.1:n.1084-369del
XR_241502.2:n.1231-369del
XR_924159.1:n.1231-369del
NM_001363880.1:c.757-369del	NP_001350809.1:n.757-369del
XM_011512992.2:c.970-369del	XP_011511294.1:n.970-369del
XR_001740207.2:n.1207-369del
XR_001740208.2:n.1207-369del
XR_001740209.2:n.1177-369del
XR_001740210.1:n.1037-369del
XR_002959553.1:n.1207-369del
XR_002959554.1:n.1207-369del
XR_241502.3:n.1177-369del
NM_020166.5:c.1084-369del MANE Select	NP_064551.3:n.1084-369del
NM_001293273.2:c.733-369del	NP_001280202.1:n.733-369del
NR_120639.2:n.907-369del
NR_120640.2:n.1751-369del