Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102865559_102865575delinsTGCCTGTACCTGCTTTG , CM000674.2:g.102865559_102865575delinsTGCCTGTACCTGCTTTG	GRCh38
NC_000012.11:g.103259337_103259353delinsTGCCTGTACCTGCTTTG , CM000674.1:g.103259337_103259353delinsTGCCTGTACCTGCTTTG	GRCh37
NC_000012.10:g.101783467_101783483delinsTGCCTGTACCTGCTTTG	NCBI36
NG_008690.1:g.57028_57044delinsCAAAGCAGGTACAGGCA
NG_008690.2:g.97836_97852delinsCAAAGCAGGTACAGGCA

HGVS	Amino-acid Change
ENST00000553106.6:c.509+1021_509+1037delinsCAAAGCAGGTACAGGCA MANE Select	ENSP00000448059.1:n.509+1021_509+1037delinsCAAAGCAGGTACAGGCA
ENST00000307000.7:c.494+1021_494+1037delinsCAAAGCAGGTACAGGCA	ENSP00000303500.2:n.494+1021_494+1037delinsCAAAGCAGGTACAGGCA
ENST00000549111.5:n.605+1021_605+1037delinsCAAAGCAGGTACAGGCA
ENST00000551988.5:n.531-10243_531-10227delinsCAAAGCAGGTACAGGCA
ENST00000553106.5:c.509+1021_509+1037delinsCAAAGCAGGTACAGGCA	ENSP00000448059.1:n.509+1021_509+1037delinsCAAAGCAGGTACAGGCA
NM_000277.1:c.509+1021_509+1037delinsCAAAGCAGGTACAGGCA	NP_000268.1:n.509+1021_509+1037delinsCAAAGCAGGTACAGGCA
XM_011538422.1:c.509+1021_509+1037delinsCAAAGCAGGTACAGGCA	XP_011536724.1:n.509+1021_509+1037delinsCAAAGCAGGTACAGGCA
NM_000277.2:c.509+1021_509+1037delinsCAAAGCAGGTACAGGCA	NP_000268.1:n.509+1021_509+1037delinsCAAAGCAGGTACAGGCA
NM_001354304.1:c.509+1021_509+1037delinsCAAAGCAGGTACAGGCA	NP_001341233.1:n.509+1021_509+1037delinsCAAAGCAGGTACAGGCA
XM_017019370.2:c.509+1021_509+1037delinsCAAAGCAGGTACAGGCA	XP_016874859.1:n.509+1021_509+1037delinsCAAAGCAGGTACAGGCA
NM_000277.3:c.509+1021_509+1037delinsCAAAGCAGGTACAGGCA MANE Select	NP_000268.1:n.509+1021_509+1037delinsCAAAGCAGGTACAGGCA
NM_001354304.2:c.509+1021_509+1037delinsCAAAGCAGGTACAGGCA	NP_001341233.1:n.509+1021_509+1037delinsCAAAGCAGGTACAGGCA