Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116888_11116900delinsGACTCCAAACTTC , CM000681.2:g.11116888_11116900delinsGACTCCAAACTTC	GRCh38
NC_000019.9:g.11227564_11227576delinsGACTCCAAACTTC , CM000681.1:g.11227564_11227576delinsGACTCCAAACTTC	GRCh37
NC_000019.8:g.11088564_11088576delinsGACTCCAAACTTC	NCBI36
NG_009060.1:g.32508_32520delinsGACTCCAAACTTC , LRG_274:g.32508_32520delinsGACTCCAAACTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1993_2005delinsGACTCCAAACTTC	ENSP00000252444.6:p.Asp665=
ENST00000559340.2:c.1705+676_1705+688delinsGACTCCAAACTTC	ENSP00000453696.2:n.1705+676_1705+688delinsGACTCCAAACTTC
ENST00000560467.2:c.1615_1627delinsGACTCCAAACTTC	ENSP00000453513.2:p.Asp539=
ENST00000558518.6:c.1735_1747delinsGACTCCAAACTTC MANE Select	ENSP00000454071.1:p.Asp579=
ENST00000252444.9:c.1989_2001delinsGACTCCAAACTTC
ENST00000455727.6:c.1231_1243delinsGACTCCAAACTTC	ENSP00000397829.2:p.Asp411=
ENST00000535915.5:c.1612_1624delinsGACTCCAAACTTC	ENSP00000440520.1:p.Asp538=
ENST00000545707.5:c.1354_1366delinsGACTCCAAACTTC	ENSP00000437639.1:p.Asp452=
ENST00000557933.5:c.1735_1747delinsGACTCCAAACTTC	ENSP00000453557.1:p.Asp579=
ENST00000558013.5:c.1735_1747delinsGACTCCAAACTTC	ENSP00000453346.1:p.Asp579=
ENST00000558518.5:c.1735_1747delinsGACTCCAAACTTC	ENSP00000454071.1:p.Asp579=
ENST00000559340.1:c.426+676_426+688delinsGACTCCAAACTTC
NM_000527.4:c.1735_1747delinsGACTCCAAACTTC , LRG_274t1:c.1735_1747delinsGACTCCAAACTTC	NP_000518.1:p.Asp579=
NM_001195798.1:c.1735_1747delinsGACTCCAAACTTC	NP_001182727.1:p.Asp579=
NM_001195799.1:c.1612_1624delinsGACTCCAAACTTC	NP_001182728.1:p.Asp538=
NM_001195800.1:c.1231_1243delinsGACTCCAAACTTC	NP_001182729.1:p.Asp411=
NM_001195803.1:c.1354_1366delinsGACTCCAAACTTC	NP_001182732.1:p.Asp452=
XM_011528010.1:c.1735_1747delinsGACTCCAAACTTC	XP_011526312.1:p.Asp579=
XM_011528011.1:c.1354_1366delinsGACTCCAAACTTC	XP_011526313.1:p.Asp452=
XR_244074.2:n.1855+676_1855+688delinsGACTCCAAACTTC
XM_011528010.2:c.1735_1747delinsGACTCCAAACTTC	XP_011526312.1:p.Asp579=
XR_001753685.2:n.1852_1864delinsGACTCCAAACTTC
XR_001753686.2:n.1822+676_1822+688delinsGACTCCAAACTTC
NM_000527.5:c.1735_1747delinsGACTCCAAACTTC MANE Select	NP_000518.1:p.Asp579=
NM_001195798.2:c.1735_1747delinsGACTCCAAACTTC	NP_001182727.1:p.Asp579=
NM_001195799.2:c.1612_1624delinsGACTCCAAACTTC	NP_001182728.1:p.Asp538=
NM_001195800.2:c.1231_1243delinsGACTCCAAACTTC	NP_001182729.1:p.Asp411=
NM_001195803.2:c.1354_1366delinsGACTCCAAACTTC	NP_001182732.1:p.Asp452=