Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18596760_18596761insTTTGATGTCGCAGAATTTTTCCGCGCCCAAATCCGCGCCGAAGCCCGCTTC , CM000681.2:g.18596760_18596761insTTTGATGTCGCAGAATTTTTCCGCGCCCAAATCCGCGCCGAAGCCCGCTTC	GRCh38
NC_000019.9:g.18707570_18707571insTTTGATGTCGCAGAATTTTTCCGCGCCCAAATCCGCGCCGAAGCCCGCTTC , CM000681.1:g.18707570_18707571insTTTGATGTCGCAGAATTTTTCCGCGCCCAAATCCGCGCCGAAGCCCGCTTC	GRCh37
NC_000019.8:g.18568570_18568571insTTTGATGTCGCAGAATTTTTCCGCGCCCAAATCCGCGCCGAAGCCCGCTTC	NCBI36
NG_013370.1:g.15090_15091insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.885_886insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA	ENSP00000506849.1:p.Ser295_Cys296insGluAlaGlyPheGlyAlaAspLeuG...
ENST00000392386.8:c.885_886insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA MANE Select	ENSP00000376188.2:p.Ser295_Cys296insGluAlaGlyPheGlyAlaAspLeuG...
ENST00000392386.7:c.885_886insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA	ENSP00000376188.2:p.Ser295_Cys296insGluAlaGlyPheGlyAlaAspLeuG...
ENST00000597131.1:c.350_351insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA
NM_004750.4:c.885_886insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA	NP_004741.1:p.Ser295_Cys296insGluAlaGlyPheGlyAlaAspLeuGlyAlaG...
XM_011528422.1:c.819_820insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA	XP_011526724.1:p.Ser273_Cys274insGluAlaGlyPheGlyAlaAspLeuGlyA...
XM_011528423.1:c.885_886insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA	XP_011526725.1:p.Ser295_Cys296insGluAlaGlyPheGlyAlaAspLeuGlyA...
XM_011528424.1:c.819_820insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA	XP_011526726.1:p.Ser273_Cys274insGluAlaGlyPheGlyAlaAspLeuGlyA...
XM_011528422.2:c.819_820insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA	XP_011526724.1:p.Ser273_Cys274insGluAlaGlyPheGlyAlaAspLeuGlyA...
XM_011528423.2:c.885_886insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA	XP_011526725.1:p.Ser295_Cys296insGluAlaGlyPheGlyAlaAspLeuGlyA...
XM_011528424.3:c.819_820insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA	XP_011526726.1:p.Ser273_Cys274insGluAlaGlyPheGlyAlaAspLeuGlyA...
NM_004750.5:c.885_886insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA MANE Select	NP_004741.1:p.Ser295_Cys296insGluAlaGlyPheGlyAlaAspLeuGlyAlaG...