Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37027797_37027798insCC , CM000669.2:g.37027797_37027798insCC	GRCh38
NC_000007.13:g.37067402_37067403insCC , CM000669.1:g.37067402_37067403insCC	GRCh37
NC_000007.12:g.37033927_37033928insCC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310758.9:c.1301-14363_1301-14362insGG MANE Select	ENSP00000312185.4:n.1301-14363_1301-14362insGG
ENST00000310758.8:c.1301-14363_1301-14362insGG	ENSP00000312185.4:n.1301-14363_1301-14362insGG
ENST00000420636.5:c.580+5549_580+5550insGG	ENSP00000396465.1:n.580+5549_580+5550insGG
ENST00000442504.5:c.1301-14363_1301-14362insGG	ENSP00000406952.1:n.1301-14363_1301-14362insGG
ENST00000448602.5:c.1301-14363_1301-14362insGG	ENSP00000394458.1:n.1301-14363_1301-14362insGG
ENST00000472359.1:n.338-14363_338-14362insGG
NM_001206480.2:c.1301-14363_1301-14362insGG	NP_001193409.1:n.1301-14363_1301-14362insGG
NM_001206482.1:c.1301-14363_1301-14362insGG	NP_001193411.1:n.1301-14363_1301-14362insGG
NM_014800.10:c.1301-14363_1301-14362insGG	NP_055615.8:n.1301-14363_1301-14362insGG
XM_005249919.1:c.1301-14363_1301-14362insGG	XP_005249976.1:n.1301-14363_1301-14362insGG
XM_006715805.1:c.1301-14363_1301-14362insGG	XP_006715868.1:n.1301-14363_1301-14362insGG
XM_011515654.1:c.1301-14363_1301-14362insGG	XP_011513956.1:n.1301-14363_1301-14362insGG
XM_011515655.1:c.1301-14363_1301-14362insGG	XP_011513957.1:n.1301-14363_1301-14362insGG
XM_005249919.3:c.1301-14363_1301-14362insGG	XP_005249976.1:n.1301-14363_1301-14362insGG
XM_011515654.2:c.1301-14363_1301-14362insGG	XP_011513956.1:n.1301-14363_1301-14362insGG
XM_017012839.1:c.1301-14363_1301-14362insGG	XP_016868328.1:n.1301-14363_1301-14362insGG
XM_024447008.1:c.1301-14363_1301-14362insGG	XP_024302776.1:n.1301-14363_1301-14362insGG
XR_001744894.2:n.1650-14363_1650-14362insGG
NM_001206482.2:c.1301-14363_1301-14362insGG	NP_001193411.1:n.1301-14363_1301-14362insGG
NM_014800.11:c.1301-14363_1301-14362insGG MANE Select	NP_055615.8:n.1301-14363_1301-14362insGG