Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429807_47429810delinsTTCG , CM000664.2:g.47429807_47429810delinsTTCG	GRCh38
NC_000002.11:g.47656946_47656949delinsTTCG , CM000664.1:g.47656946_47656949delinsTTCG	GRCh37
NC_000002.10:g.47510450_47510453delinsTTCG	NCBI36
NG_007110.2:g.31684_31687delinsTTCG , LRG_218:g.31684_31687delinsTTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1142_1145delinsTTCG	ENSP00000495641.2:p.Leu381=
ENST00000233146.7:c.1142_1145delinsTTCG MANE Select	ENSP00000233146.2:p.Leu381=
ENST00000543555.6:c.944_947delinsTTCG	ENSP00000442697.1:p.Leu315=
ENST00000644092.1:c.1142_1145delinsTTCG	ENSP00000496351.1:p.Leu381=
ENST00000645339.1:c.1142_1145delinsTTCG	ENSP00000496441.1:p.Leu381=
ENST00000645506.1:c.1142_1145delinsTTCG	ENSP00000495455.1:p.Leu381=
ENST00000646415.1:c.1142_1145delinsTTCG	ENSP00000495543.1:p.Leu381=
ENST00000233146.6:c.1142_1145delinsTTCG	ENSP00000233146.2:p.Leu381=
ENST00000406134.5:c.1142_1145delinsTTCG	ENSP00000384199.1:p.Leu381=
ENST00000543555.5:c.944_947delinsTTCG	ENSP00000442697.1:p.Leu315=
ENST00000610696.4:c.1142_1145delinsTTCG	ENSP00000483159.1:p.Leu381=
ENST00000613514.4:c.1142_1145delinsTTCG	ENSP00000484137.1:p.Leu381=
ENST00000617333.3:c.1141_1144delinsTTCG	ENSP00000482468.1:p.Phe381=
ENST00000617938.4:c.114_117delinsTTCG	ENSP00000481158.1:n.114_117delinsTTCG
ENST00000621359.2:c.1142_1145delinsTTCG	ENSP00000481416.1:p.Leu381=
NM_000251.2:c.1142_1145delinsTTCG , LRG_218t1:c.1142_1145delinsTTCG	NP_000242.1:p.Leu381=
NM_001258281.1:c.944_947delinsTTCG	NP_001245210.1:p.Leu315=
XM_005264332.2:c.1142_1145delinsTTCG	XP_005264389.2:p.Leu381=
XM_011532867.1:c.1142_1145delinsTTCG	XP_011531169.1:p.Leu381=
XR_939685.1:n.1214_1217delinsTTCG
XM_005264332.4:c.1142_1145delinsTTCG	XP_005264389.2:p.Leu381=
XM_011532867.2:c.1142_1145delinsTTCG	XP_011531169.1:p.Leu381=
XR_001738747.2:n.1204_1207delinsTTCG
XR_939685.2:n.1204_1207delinsTTCG
NM_000251.3:c.1142_1145delinsTTCG MANE Select	NP_000242.1:p.Leu381=