Canonical Allele Identifier: CA532432218

Gene: CAMKMT

Linked Data

• dbSNP Id: rs1167274414
• gnomAD v2: 2-44662510-G-GC
• gnomAD v3: 2-44435371-G-GC
• gnomAD v4: 2-44435371-G-GC
• MyVariant Identifiers: chr2:g.44662510_44662511insC (hg19) ; chr2:g.44435371_44435372insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44435371_44435372insC , CM000664.2:g.44435371_44435372insC	GRCh38
NC_000002.11:g.44662510_44662511insC , CM000664.1:g.44662510_44662511insC	GRCh37
NC_000002.10:g.44516014_44516015insC	NCBI36
NG_032944.1:g.78468_78469insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378494.8:c.376+45066_376+45067insC MANE Select	ENSP00000367755.3:n.376+45066_376+45067insC
ENST00000378494.7:c.376+45066_376+45067insC	ENSP00000367755.3:n.376+45066_376+45067insC
ENST00000402247.5:c.376+45066_376+45067insC	ENSP00000385587.1:n.376+45066_376+45067insC
ENST00000403853.7:c.377-21197_377-21196insC	ENSP00000385124.3:n.377-21197_377-21196insC
ENST00000407131.5:c.376+45066_376+45067insC	ENSP00000384039.1:n.376+45066_376+45067insC
ENST00000428993.1:c.206+45066_206+45067insC
NM_024766.4:c.376+45066_376+45067insC	NP_079042.1:n.376+45066_376+45067insC
XM_011533111.1:c.376+45066_376+45067insC	XP_011531413.1:n.376+45066_376+45067insC
XM_011533112.1:c.376+45066_376+45067insC	XP_011531414.1:n.376+45066_376+45067insC
XR_939721.1:n.446+45066_446+45067insC
XR_939722.1:n.446+45066_446+45067insC
XR_939723.1:n.446+45066_446+45067insC
XM_011533111.2:c.376+45066_376+45067insC	XP_011531413.1:n.376+45066_376+45067insC
XM_017004971.1:c.661+45066_661+45067insC	XP_016860460.1:n.661+45066_661+45067insC
XM_017004975.1:c.662-6570_662-6569insC	XP_016860464.1:n.662-6570_662-6569insC
XM_017004976.1:c.661+45066_661+45067insC	XP_016860465.1:n.661+45066_661+45067insC
XM_017004977.1:c.662-21197_662-21196insC	XP_016860466.1:n.662-21197_662-21196insC
XM_017004978.1:c.662-21197_662-21196insC	XP_016860467.1:n.662-21197_662-21196insC
XM_017004980.1:c.662-40410_662-40409insC	XP_016860469.1:n.662-40410_662-40409insC
XM_017004981.1:c.662-8221_662-8220insC	XP_016860470.1:n.662-8221_662-8220insC
XR_001738949.2:n.446+45066_446+45067insC
XR_001738950.1:n.670+45066_670+45067insC
XR_001738953.1:n.671-6570_671-6569insC
XR_939722.2:n.446+45066_446+45067insC
NM_024766.5:c.376+45066_376+45067insC MANE Select	NP_079042.1:n.376+45066_376+45067insC