Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44150097_44150099delinsCAT , CM000669.2:g.44150097_44150099delinsCAT	GRCh38
NC_000007.13:g.44189696_44189698delinsCAT , CM000669.1:g.44189696_44189698delinsCAT	GRCh37
NC_000007.12:g.44156221_44156223delinsCAT	NCBI36
NG_008847.1:g.44325_44327delinsATG
NG_008847.2:g.53072_53074delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.482-35_482-33delinsATG	ENSP00000379142.4:n.482-35_482-33delinsATG
ENST00000616242.5:c.484-35_484-33delinsATG	ENSP00000482149.2:n.484-35_484-33delinsATG
ENST00000682635.1:n.970-35_970-33delinsATG
ENST00000345378.7:c.487-35_487-33delinsATG	ENSP00000223366.2:n.487-35_487-33delinsATG
ENST00000403799.8:c.484-35_484-33delinsATG MANE Select	ENSP00000384247.3:n.484-35_484-33delinsATG
ENST00000671824.1:c.484-35_484-33delinsATG	ENSP00000500264.1:n.484-35_484-33delinsATG
ENST00000673284.1:c.484-35_484-33delinsATG	ENSP00000499852.1:n.484-35_484-33delinsATG
ENST00000345378.6:c.487-35_487-33delinsATG	ENSP00000223366.2:n.487-35_487-33delinsATG
ENST00000395796.7:c.481-35_481-33delinsATG	ENSP00000379142.3:n.481-35_481-33delinsATG
ENST00000403799.7:c.484-35_484-33delinsATG	ENSP00000384247.3:n.484-35_484-33delinsATG
ENST00000437084.1:c.433-35_433-33delinsATG	ENSP00000402840.1:n.433-35_433-33delinsATG
ENST00000616242.4:c.481-35_481-33delinsATG	ENSP00000482149.1:n.481-35_481-33delinsATG
NM_000162.3:c.484-35_484-33delinsATG	NP_000153.1:n.484-35_484-33delinsATG
NM_033507.1:c.487-35_487-33delinsATG	NP_277042.1:n.487-35_487-33delinsATG
NM_033508.1:c.481-35_481-33delinsATG	NP_277043.1:n.481-35_481-33delinsATG
NM_000162.4:c.484-35_484-33delinsATG	NP_000153.1:n.484-35_484-33delinsATG
NM_001354800.1:c.484-35_484-33delinsATG	NP_001341729.1:n.484-35_484-33delinsATG
NM_033507.2:c.487-35_487-33delinsATG	NP_277042.1:n.487-35_487-33delinsATG
NM_033508.2:c.481-35_481-33delinsATG	NP_277043.1:n.481-35_481-33delinsATG
NM_000162.5:c.484-35_484-33delinsATG MANE Select	NP_000153.1:n.484-35_484-33delinsATG
NM_033507.3:c.487-35_487-33delinsATG	NP_277042.1:n.487-35_487-33delinsATG
NM_033508.3:c.481-35_481-33delinsATG	NP_277043.1:n.481-35_481-33delinsATG