Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402330_15402332delinsATG , CM000664.2:g.15402330_15402332delinsATG	GRCh38
NC_000002.11:g.15542454_15542456delinsATG , CM000664.1:g.15542454_15542456delinsATG	GRCh37
NC_000002.10:g.15459905_15459907delinsATG	NCBI36
NG_032964.1:g.164017_164019delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1035-31_1035-29delinsCAT
ENST00000700062.1:c.1035-31_1035-29delinsCAT
ENST00000700065.1:n.2951-31_2951-29delinsCAT
ENST00000281513.10:c.2938-31_2938-29delinsCAT MANE Select	ENSP00000281513.5:n.2938-31_2938-29delinsCAT
ENST00000281513.9:c.2938-31_2938-29delinsCAT	ENSP00000281513.5:n.2938-31_2938-29delinsCAT
ENST00000429842.1:c.230-31_230-29delinsCAT
ENST00000441755.5:c.79-31_79-29delinsCAT	ENSP00000396501.1:n.79-31_79-29delinsCAT
ENST00000442506.5:c.81-31_81-29delinsCAT
NM_015909.3:c.2938-31_2938-29delinsCAT	NP_056993.2:n.2938-31_2938-29delinsCAT
NR_052013.2:n.2982-31_2982-29delinsCAT
XM_011510357.1:c.2809-31_2809-29delinsCAT	XP_011508659.1:n.2809-31_2809-29delinsCAT
XM_011510358.1:c.2938-31_2938-29delinsCAT	XP_011508660.1:n.2938-31_2938-29delinsCAT
XM_011510359.1:c.2299-31_2299-29delinsCAT	XP_011508661.1:n.2299-31_2299-29delinsCAT
XM_011510360.1:c.739-31_739-29delinsCAT	XP_011508662.1:n.739-31_739-29delinsCAT
XM_011510361.1:c.730-31_730-29delinsCAT	XP_011508663.1:n.730-31_730-29delinsCAT
XM_011510357.2:c.2809-31_2809-29delinsCAT	XP_011508659.1:n.2809-31_2809-29delinsCAT
XM_011510358.2:c.2938-31_2938-29delinsCAT	XP_011508660.1:n.2938-31_2938-29delinsCAT
XM_011510360.2:c.739-31_739-29delinsCAT	XP_011508662.1:n.739-31_739-29delinsCAT
XM_011510361.2:c.730-31_730-29delinsCAT	XP_011508663.1:n.730-31_730-29delinsCAT
XM_017004317.1:c.2938-31_2938-29delinsCAT	XP_016859806.1:n.2938-31_2938-29delinsCAT
XM_024452961.1:c.2299-31_2299-29delinsCAT	XP_024308729.1:n.2299-31_2299-29delinsCAT
NM_015909.4:c.2938-31_2938-29delinsCAT MANE Select	NP_056993.2:n.2938-31_2938-29delinsCAT
NR_052013.3:n.2968-31_2968-29delinsCAT