Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13751820_13751821delinsAG , CM000667.2:g.13751820_13751821delinsAG	GRCh38
NC_000005.9:g.13751929_13751930delinsAG , CM000667.1:g.13751929_13751930delinsAG	GRCh37
NC_000005.8:g.13804929_13804930delinsAG	NCBI36
NG_013081.1:g.197660_197661delinsCT
NG_013081.2:g.197660_197661delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11028+313_11028+314delinsCT MANE Select	ENSP00000265104.4:n.11028+313_11028+314delinsCT
ENST00000681290.1:c.10983+313_10983+314delinsCT	ENSP00000505288.1:n.10983+313_10983+314delinsCT
ENST00000265104.4:c.11028+313_11028+314delinsCT	ENSP00000265104.4:n.11028+313_11028+314delinsCT
NM_001369.2:c.11028+313_11028+314delinsCT	NP_001360.1:n.11028+313_11028+314delinsCT
XM_005248262.2:c.10983+313_10983+314delinsCT	XP_005248319.1:n.10983+313_10983+314delinsCT
XM_005248262.3:c.11136+313_11136+314delinsCT	XP_005248319.2:n.11136+313_11136+314delinsCT
XM_017009177.1:c.11136+313_11136+314delinsCT	XP_016864666.1:n.11136+313_11136+314delinsCT
XM_017009178.1:c.10041+313_10041+314delinsCT	XP_016864667.1:n.10041+313_10041+314delinsCT
XM_017009179.2:c.10041+313_10041+314delinsCT	XP_016864668.1:n.10041+313_10041+314delinsCT
XM_017009180.1:c.11136+313_11136+314delinsCT	XP_016864669.1:n.11136+313_11136+314delinsCT
XM_017009181.1:c.11136+313_11136+314delinsCT	XP_016864670.1:n.11136+313_11136+314delinsCT
XM_017009182.1:c.11136+313_11136+314delinsCT	XP_016864671.1:n.11136+313_11136+314delinsCT
XM_017009185.1:c.6225+313_6225+314delinsCT	XP_016864674.1:n.6225+313_6225+314delinsCT
XM_017009186.1:c.5778+313_5778+314delinsCT	XP_016864675.1:n.5778+313_5778+314delinsCT
XM_017009188.1:c.5115+313_5115+314delinsCT	XP_016864677.1:n.5115+313_5115+314delinsCT
XM_024454388.1:c.10041+313_10041+314delinsCT	XP_024310156.1:n.10041+313_10041+314delinsCT
XM_024454389.1:c.9630+313_9630+314delinsCT	XP_024310157.1:n.9630+313_9630+314delinsCT
NM_001369.3:c.11028+313_11028+314delinsCT MANE Select	NP_001360.1:n.11028+313_11028+314delinsCT