Canonical Allele Identifier: CA1030049318

Gene: CAMKMT

Linked Data

• dbSNP Id: rs1666161104
• gnomAD v3: 2-44435269-TA-T
• gnomAD v4: 2-44435269-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44435271del , CM000664.2:g.44435271del	GRCh38
NC_000002.11:g.44662410del , CM000664.1:g.44662410del	GRCh37
NC_000002.10:g.44515914del	NCBI36
NG_032944.1:g.78368del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378494.8:c.376+44966del MANE Select	ENSP00000367755.3:n.376+44966del
ENST00000378494.7:c.376+44966del	ENSP00000367755.3:n.376+44966del
ENST00000402247.5:c.376+44966del	ENSP00000385587.1:n.376+44966del
ENST00000403853.7:c.377-21297del	ENSP00000385124.3:n.377-21297del
ENST00000407131.5:c.376+44966del	ENSP00000384039.1:n.376+44966del
ENST00000428993.1:c.206+44966del
NM_024766.4:c.376+44966del	NP_079042.1:n.376+44966del
XM_011533111.1:c.376+44966del	XP_011531413.1:n.376+44966del
XM_011533112.1:c.376+44966del	XP_011531414.1:n.376+44966del
XR_939721.1:n.446+44966del
XR_939722.1:n.446+44966del
XR_939723.1:n.446+44966del
XM_011533111.2:c.376+44966del	XP_011531413.1:n.376+44966del
XM_017004971.1:c.661+44966del	XP_016860460.1:n.661+44966del
XM_017004975.1:c.662-6670del	XP_016860464.1:n.662-6670del
XM_017004976.1:c.661+44966del	XP_016860465.1:n.661+44966del
XM_017004977.1:c.662-21297del	XP_016860466.1:n.662-21297del
XM_017004978.1:c.662-21297del	XP_016860467.1:n.662-21297del
XM_017004980.1:c.662-40510del	XP_016860469.1:n.662-40510del
XM_017004981.1:c.662-8321del	XP_016860470.1:n.662-8321del
XR_001738949.2:n.446+44966del
XR_001738950.1:n.670+44966del
XR_001738953.1:n.671-6670del
XR_939722.2:n.446+44966del
NM_024766.5:c.376+44966del MANE Select	NP_079042.1:n.376+44966del