Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.26753961_26753962insCTATGCAACAGACACTAAAA , CM000666.2:g.26753961_26753962insCTATGCAACAGACACTAAAA	GRCh38
NC_000004.11:g.26755583_26755584insCTATGCAACAGACACTAAAA , CM000666.1:g.26755583_26755584insCTATGCAACAGACACTAAAA	GRCh37
NC_000004.10:g.26364681_26364682insCTATGCAACAGACACTAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264866.9:c.1506+71_1506+72insCTATGCAACAGACACTAAAA MANE Select	ENSP00000264866.4:n.1506+71_1506+72insCTATGCAACAGACACTAAAA
ENST00000264866.8:c.1506+71_1506+72insCTATGCAACAGACACTAAAA	ENSP00000264866.4:n.1506+71_1506+72insCTATGCAACAGACACTAAAA
ENST00000502873.5:n.1687_1688insCTATGCAACAGACACTAAAA
ENST00000511789.5:c.1311+71_1311+72insCTATGCAACAGACACTAAAA	ENSP00000425569.1:n.1311+71_1311+72insCTATGCAACAGACACTAAAA
NM_001292054.1:c.1311+71_1311+72insCTATGCAACAGACACTAAAA	NP_001278983.1:n.1311+71_1311+72insCTATGCAACAGACACTAAAA
NM_018317.3:c.1506+71_1506+72insCTATGCAACAGACACTAAAA	NP_060787.2:n.1506+71_1506+72insCTATGCAACAGACACTAAAA
XM_011513851.1:c.1506+71_1506+72insCTATGCAACAGACACTAAAA	XP_011512153.1:n.1506+71_1506+72insCTATGCAACAGACACTAAAA
XR_925333.1:n.1616+71_1616+72insCTATGCAACAGACACTAAAA
XR_925335.1:n.1545+5435_1545+5436insCTATGCAACAGACACTAAAA
XR_925336.1:n.1671+71_1671+72insCTATGCAACAGACACTAAAA
XR_925337.1:n.1656+71_1656+72insCTATGCAACAGACACTAAAA
XM_017008363.1:c.1506+71_1506+72insCTATGCAACAGACACTAAAA	XP_016863852.1:n.1506+71_1506+72insCTATGCAACAGACACTAAAA
XR_001741276.1:n.1616+71_1616+72insCTATGCAACAGACACTAAAA
XR_001741277.1:n.1616+71_1616+72insCTATGCAACAGACACTAAAA
XR_925333.2:n.1616+71_1616+72insCTATGCAACAGACACTAAAA
XR_925335.3:n.1545+5435_1545+5436insCTATGCAACAGACACTAAAA
XR_925336.2:n.1671+71_1671+72insCTATGCAACAGACACTAAAA
XR_925337.2:n.1656+71_1656+72insCTATGCAACAGACACTAAAA
NM_018317.4:c.1506+71_1506+72insCTATGCAACAGACACTAAAA MANE Select	NP_060787.2:n.1506+71_1506+72insCTATGCAACAGACACTAAAA
NM_001292054.2:c.1311+71_1311+72insCTATGCAACAGACACTAAAA	NP_001278983.1:n.1311+71_1311+72insCTATGCAACAGACACTAAAA