Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102851131_102851137delinsTTTGAGC , CM000674.2:g.102851131_102851137delinsTTTGAGC	GRCh38
NC_000012.11:g.103244909_103244915delinsTTTGAGC , CM000674.1:g.103244909_103244915delinsTTTGAGC	GRCh37
NC_000012.10:g.101769039_101769045delinsTTTGAGC	NCBI36
NG_008690.1:g.71466_71472delinsGCTCAAA
NG_008690.2:g.112274_112280delinsGCTCAAA

HGVS	Amino-acid Change
NM_000277.3:c.912+550_912+556delinsGCTCAAA MANE Select	NP_000268.1:n.912+550_912+556delinsGCTCAAA
ENST00000553106.6:c.912+550_912+556delinsGCTCAAA MANE Select	ENSP00000448059.1:n.912+550_912+556delinsGCTCAAA
NM_000277.1:c.912+550_912+556delinsGCTCAAA	NP_000268.1:n.912+550_912+556delinsGCTCAAA
NM_000277.2:c.912+550_912+556delinsGCTCAAA	NP_000268.1:n.912+550_912+556delinsGCTCAAA
NM_001354304.1:c.912+550_912+556delinsGCTCAAA	NP_001341233.1:n.912+550_912+556delinsGCTCAAA
NM_001354304.2:c.912+550_912+556delinsGCTCAAA	NP_001341233.1:n.912+550_912+556delinsGCTCAAA
ENST00000307000.7:c.897+550_897+556delinsGCTCAAA	ENSP00000303500.2:n.897+550_897+556delinsGCTCAAA
ENST00000549247.6:n.671+550_671+556delinsGCTCAAA
ENST00000551114.2:n.574+550_574+556delinsGCTCAAA
ENST00000553106.5:c.912+550_912+556delinsGCTCAAA	ENSP00000448059.1:n.912+550_912+556delinsGCTCAAA
ENST00000635477.1:c.73+550_73+556delinsGCTCAAA
XM_011538422.1:c.912+550_912+556delinsGCTCAAA	XP_011536724.1:n.912+550_912+556delinsGCTCAAA