Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44150141_44150142delinsAC , CM000669.2:g.44150141_44150142delinsAC	GRCh38
NC_000007.13:g.44189740_44189741delinsAC , CM000669.1:g.44189740_44189741delinsAC	GRCh37
NC_000007.12:g.44156265_44156266delinsAC	NCBI36
NG_008847.1:g.44282_44283delinsGT
NG_008847.2:g.53029_53030delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.482-78_482-77delinsGT	ENSP00000379142.4:n.482-78_482-77delinsGT
ENST00000616242.5:c.484-78_484-77delinsGT	ENSP00000482149.2:n.484-78_484-77delinsGT
ENST00000682635.1:n.970-78_970-77delinsGT
ENST00000345378.7:c.487-78_487-77delinsGT	ENSP00000223366.2:n.487-78_487-77delinsGT
ENST00000403799.8:c.484-78_484-77delinsGT MANE Select	ENSP00000384247.3:n.484-78_484-77delinsGT
ENST00000671824.1:c.484-78_484-77delinsGT	ENSP00000500264.1:n.484-78_484-77delinsGT
ENST00000673284.1:c.484-78_484-77delinsGT	ENSP00000499852.1:n.484-78_484-77delinsGT
ENST00000345378.6:c.487-78_487-77delinsGT	ENSP00000223366.2:n.487-78_487-77delinsGT
ENST00000395796.7:c.481-78_481-77delinsGT	ENSP00000379142.3:n.481-78_481-77delinsGT
ENST00000403799.7:c.484-78_484-77delinsGT	ENSP00000384247.3:n.484-78_484-77delinsGT
ENST00000437084.1:c.433-78_433-77delinsGT	ENSP00000402840.1:n.433-78_433-77delinsGT
ENST00000616242.4:c.481-78_481-77delinsGT	ENSP00000482149.1:n.481-78_481-77delinsGT
NM_000162.3:c.484-78_484-77delinsGT	NP_000153.1:n.484-78_484-77delinsGT
NM_033507.1:c.487-78_487-77delinsGT	NP_277042.1:n.487-78_487-77delinsGT
NM_033508.1:c.481-78_481-77delinsGT	NP_277043.1:n.481-78_481-77delinsGT
NM_000162.4:c.484-78_484-77delinsGT	NP_000153.1:n.484-78_484-77delinsGT
NM_001354800.1:c.484-78_484-77delinsGT	NP_001341729.1:n.484-78_484-77delinsGT
NM_033507.2:c.487-78_487-77delinsGT	NP_277042.1:n.487-78_487-77delinsGT
NM_033508.2:c.481-78_481-77delinsGT	NP_277043.1:n.481-78_481-77delinsGT
NM_000162.5:c.484-78_484-77delinsGT MANE Select	NP_000153.1:n.484-78_484-77delinsGT
NM_033507.3:c.487-78_487-77delinsGT	NP_277042.1:n.487-78_487-77delinsGT
NM_033508.3:c.481-78_481-77delinsGT	NP_277043.1:n.481-78_481-77delinsGT