Canonical Allele Identifier: CA2580078367

Gene: MCM4

Linked Data

• ClinVar Variation Id: 1990423
• ClinVar RCV Id: RCV002800878

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47972875_47972876delinsTA , CM000670.2:g.47972875_47972876delinsTA	GRCh38
NC_000008.10:g.48885435_48885436delinsTA , CM000670.1:g.48885435_48885436delinsTA	GRCh37
NC_000008.9:g.49047988_49047989delinsTA	NCBI36
NG_032967.1:g.17673_17674delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519470.2:n.1680_1681delinsTA
ENST00000697120.1:n.3430_3431delinsTA
ENST00000697121.1:n.2120_2121delinsTA
ENST00000697122.1:c.1175-3811_1175-3810delinsTA	ENSP00000513122.1:n.1175-3811_1175-3810delinsTA
ENST00000697123.1:n.2029_2030delinsTA
ENST00000520637.2:c.1104_1105delinsTA	ENSP00000427875.2:p.Leu369Met
ENST00000647877.1:c.386_387delinsTA
ENST00000648407.1:c.1947_1948delinsTA	ENSP00000497881.1:p.Leu650Met
ENST00000648519.1:c.*1676_*1677delinsTA	ENSP00000497176.1:n.*1676_*1677delinsTA
ENST00000649838.1:c.2070_2071delinsTA	ENSP00000497648.1:p.Leu691Met
ENST00000649919.1:c.1797_1798delinsTA	ENSP00000498202.1:p.Leu600Met
ENST00000649973.1:c.1947_1948delinsTA MANE Select	ENSP00000496964.1:p.Leu650Met
ENST00000650216.1:c.1605_1606delinsTA	ENSP00000497093.1:p.Leu536Met
ENST00000650327.1:n.54_55delinsTA
ENST00000262105.6:c.1947_1948delinsTA	ENSP00000262105.2:p.Leu650Met
ENST00000518382.1:c.37+1407_37+1408delinsTA
ENST00000523853.1:n.164_165delinsTA
ENST00000523944.5:c.1947_1948delinsTA	ENSP00000430194.1:p.Leu650Met
NM_005914.3:c.1947_1948delinsTA	NP_005905.2:p.Leu650Met
NM_182746.2:c.1947_1948delinsTA	NP_877423.1:p.Leu650Met
XM_005251234.1:c.1797_1798delinsTA	XP_005251291.1:p.Leu600Met
NM_005914.4:c.1947_1948delinsTA	NP_005905.2:p.Leu650Met
NM_182746.3:c.1947_1948delinsTA MANE Select	NP_877423.1:p.Leu650Met