Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102438164_102438165delinsCT , CM000664.2:g.102438164_102438165delinsCT	GRCh38
NC_000002.11:g.103054624_103054625delinsCT , CM000664.1:g.103054624_103054625delinsCT	GRCh37
NC_000002.10:g.102421056_102421057delinsCT	NCBI36
NG_011481.1:g.24371_24372delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687160.1:c.730+802_730+803delinsCT MANE Select	ENSP00000510345.1:n.730+802_730+803delinsCT
ENST00000264260.6:c.730+802_730+803delinsCT	ENSP00000264260.2:n.730+802_730+803delinsCT
ENST00000409369.1:c.304+802_304+803delinsCT	ENSP00000387201.1:n.304+802_304+803delinsCT
NM_003853.3:c.730+802_730+803delinsCT	NP_003844.1:n.730+802_730+803delinsCT
XM_011512087.1:c.304+802_304+803delinsCT	XP_011510389.1:n.304+802_304+803delinsCT
XM_011512088.1:c.304+802_304+803delinsCT	XP_011510390.1:n.304+802_304+803delinsCT
XM_011512089.1:c.730+802_730+803delinsCT	XP_011510391.1:n.730+802_730+803delinsCT
XR_923052.1:n.1067+802_1067+803delinsCT
XM_011512087.2:c.304+802_304+803delinsCT	XP_011510389.1:n.304+802_304+803delinsCT
XM_011512088.2:c.304+802_304+803delinsCT	XP_011510390.1:n.304+802_304+803delinsCT
XM_024453197.1:c.730+802_730+803delinsCT	XP_024308965.1:n.730+802_730+803delinsCT
XM_024453198.1:c.730+802_730+803delinsCT	XP_024308966.1:n.730+802_730+803delinsCT
XM_024453199.1:c.730+802_730+803delinsCT	XP_024308967.1:n.730+802_730+803delinsCT
XM_024453200.1:c.730+802_730+803delinsCT	XP_024308968.1:n.730+802_730+803delinsCT
XM_024453201.1:c.730+802_730+803delinsCT	XP_024308969.1:n.730+802_730+803delinsCT
XR_001739011.2:n.1065+802_1065+803delinsCT
NM_001393486.1:c.730+802_730+803delinsCT	NP_001380415.1:n.730+802_730+803delinsCT
NM_001393487.1:c.730+802_730+803delinsCT MANE Select	NP_001380416.1:n.730+802_730+803delinsCT
NM_001393488.1:c.304+802_304+803delinsCT	NP_001380417.1:n.304+802_304+803delinsCT
NM_001393489.1:c.304+802_304+803delinsCT	NP_001380418.1:n.304+802_304+803delinsCT
NM_003853.4:c.730+802_730+803delinsCT	NP_003844.1:n.730+802_730+803delinsCT