Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43519854_43519855insA , CM000668.2:g.43519854_43519855insA	GRCh38
NC_000006.11:g.43487592_43487593insA , CM000668.1:g.43487592_43487593insA	GRCh37
NC_000006.10:g.43595570_43595571insA	NCBI36
NG_028283.1:g.7816_7817insA
NG_028283.3:g.15153_15154insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.382+16_382+17insA	ENSP00000496683.1:n.382+16_382+17insA
ENST00000642195.1:c.382+16_382+17insA MANE Select	ENSP00000496044.1:n.382+16_382+17insA
ENST00000643341.1:c.382+16_382+17insA	ENSP00000496018.1:n.382+16_382+17insA
ENST00000643799.1:c.382+16_382+17insA	ENSP00000494529.1:n.382+16_382+17insA
ENST00000645141.1:c.398_399insA	ENSP00000496755.1:p.Phe133LeufsTer14
ENST00000646188.1:c.217+16_217+17insA	ENSP00000496001.1:n.217+16_217+17insA
ENST00000646433.1:c.382+16_382+17insA	ENSP00000494368.1:n.382+16_382+17insA
ENST00000646700.1:c.382+16_382+17insA	ENSP00000495521.1:n.382+16_382+17insA
ENST00000304004.7:c.382+16_382+17insA	ENSP00000307212.3:n.382+16_382+17insA
ENST00000372344.6:c.382+16_382+17insA	ENSP00000361419.2:n.382+16_382+17insA
ENST00000372389.7:c.382+16_382+17insA	ENSP00000361465.3:n.382+16_382+17insA
ENST00000423780.1:c.380+16_380+17insA
ENST00000428025.6:c.217+16_217+17insA	ENSP00000395401.2:n.217+16_217+17insA
ENST00000455605.2:n.375_376insA
ENST00000481352.6:n.454_455insA
ENST00000488601.6:n.410_411insA
NM_203290.2:c.382+16_382+17insA	NP_976035.1:n.382+16_382+17insA
XM_005249491.1:c.382+16_382+17insA	XP_005249548.1:n.382+16_382+17insA
XM_011515000.1:c.382+16_382+17insA	XP_011513302.1:n.382+16_382+17insA
NM_001318876.1:c.382+16_382+17insA	NP_001305805.1:n.382+16_382+17insA
NM_001363658.1:c.382+16_382+17insA	NP_001350587.1:n.382+16_382+17insA
NM_203290.3:c.382+16_382+17insA	NP_976035.1:n.382+16_382+17insA
NM_203290.4:c.382+16_382+17insA MANE Select	NP_976035.1:n.382+16_382+17insA
NM_001363658.2:c.382+16_382+17insA	NP_001350587.1:n.382+16_382+17insA
NM_001318876.2:c.382+16_382+17insA	NP_001305805.1:n.382+16_382+17insA