Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102844347_102844358delinsCAAAGGATGACA , CM000674.2:g.102844347_102844358delinsCAAAGGATGACA	GRCh38
NC_000012.11:g.103238125_103238136delinsCAAAGGATGACA , CM000674.1:g.103238125_103238136delinsCAAAGGATGACA	GRCh37
NC_000012.10:g.101762255_101762266delinsCAAAGGATGACA	NCBI36
NG_008690.1:g.78245_78256delinsTGTCATCCTTTG
NG_008690.2:g.119053_119064delinsTGTCATCCTTTG

HGVS	Amino-acid Change
ENST00000553106.6:c.1043_1054delinsTGTCATCCTTTG MANE Select	ENSP00000448059.1:p.Leu348=
ENST00000307000.7:c.1028_1039delinsTGTCATCCTTTG	ENSP00000303500.2:p.Leu343=
ENST00000549247.6:n.802_813delinsTGTCATCCTTTG
ENST00000551114.2:n.705_716delinsTGTCATCCTTTG
ENST00000553106.5:c.1043_1054delinsTGTCATCCTTTG	ENSP00000448059.1:p.Leu348=
ENST00000635477.1:c.147_158delinsTGTCATCCTTTG
ENST00000635528.1:n.558_569delinsTGTCATCCTTTG
NM_000277.1:c.1043_1054delinsTGTCATCCTTTG	NP_000268.1:p.Leu348=
XM_011538422.1:c.986_997delinsTGTCATCCTTTG	XP_011536724.1:p.Leu329=
NM_000277.2:c.1043_1054delinsTGTCATCCTTTG	NP_000268.1:p.Leu348=
NM_001354304.1:c.1043_1054delinsTGTCATCCTTTG	NP_001341233.1:p.Leu348=
NM_000277.3:c.1043_1054delinsTGTCATCCTTTG MANE Select	NP_000268.1:p.Leu348=
NM_001354304.2:c.1043_1054delinsTGTCATCCTTTG	NP_001341233.1:p.Leu348=