Canonical Allele Identifier: CA769147824

Gene: CAMKMT

Linked Data

• dbSNP Id: rs1272956555
• MyVariant Identifiers: chr2:g.44662506_44662507insAA (hg19) ; chr2:g.44435367_44435368insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44435368_44435369insAA , CM000664.2:g.44435368_44435369insAA	GRCh38
NC_000002.11:g.44662507_44662508insAA , CM000664.1:g.44662507_44662508insAA	GRCh37
NC_000002.10:g.44516011_44516012insAA	NCBI36
NG_032944.1:g.78465_78466insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378494.8:c.376+45063_376+45064insAA MANE Select	ENSP00000367755.3:n.376+45063_376+45064insAA
ENST00000378494.7:c.376+45063_376+45064insAA	ENSP00000367755.3:n.376+45063_376+45064insAA
ENST00000402247.5:c.376+45063_376+45064insAA	ENSP00000385587.1:n.376+45063_376+45064insAA
ENST00000403853.7:c.377-21200_377-21199insAA	ENSP00000385124.3:n.377-21200_377-21199insAA
ENST00000407131.5:c.376+45063_376+45064insAA	ENSP00000384039.1:n.376+45063_376+45064insAA
ENST00000428993.1:c.206+45063_206+45064insAA
NM_024766.4:c.376+45063_376+45064insAA	NP_079042.1:n.376+45063_376+45064insAA
XM_011533111.1:c.376+45063_376+45064insAA	XP_011531413.1:n.376+45063_376+45064insAA
XM_011533112.1:c.376+45063_376+45064insAA	XP_011531414.1:n.376+45063_376+45064insAA
XR_939721.1:n.446+45063_446+45064insAA
XR_939722.1:n.446+45063_446+45064insAA
XR_939723.1:n.446+45063_446+45064insAA
XM_011533111.2:c.376+45063_376+45064insAA	XP_011531413.1:n.376+45063_376+45064insAA
XM_017004971.1:c.661+45063_661+45064insAA	XP_016860460.1:n.661+45063_661+45064insAA
XM_017004975.1:c.662-6573_662-6572insAA	XP_016860464.1:n.662-6573_662-6572insAA
XM_017004976.1:c.661+45063_661+45064insAA	XP_016860465.1:n.661+45063_661+45064insAA
XM_017004977.1:c.662-21200_662-21199insAA	XP_016860466.1:n.662-21200_662-21199insAA
XM_017004978.1:c.662-21200_662-21199insAA	XP_016860467.1:n.662-21200_662-21199insAA
XM_017004980.1:c.662-40413_662-40412insAA	XP_016860469.1:n.662-40413_662-40412insAA
XM_017004981.1:c.662-8224_662-8223insAA	XP_016860470.1:n.662-8224_662-8223insAA
XR_001738949.2:n.446+45063_446+45064insAA
XR_001738950.1:n.670+45063_670+45064insAA
XR_001738953.1:n.671-6573_671-6572insAA
XR_939722.2:n.446+45063_446+45064insAA
NM_024766.5:c.376+45063_376+45064insAA MANE Select	NP_079042.1:n.376+45063_376+45064insAA