Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562154_142562155delinsAT , CM000665.2:g.142562154_142562155delinsAT	GRCh38
NC_000003.11:g.142280996_142280997delinsAT , CM000665.1:g.142280996_142280997delinsAT	GRCh37
NC_000003.10:g.143763686_143763687delinsAT	NCBI36
NG_008951.1:g.21672_21673delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.1170+77_1170+78delinsAT MANE Select	ENSP00000343741.4:n.1170+77_1170+78delinsAT
ENST00000515149.3:c.293-734_293-733delinsAT	ENSP00000425897.3:n.293-734_293-733delinsAT
ENST00000653868.1:n.1199+77_1199+78delinsAT
ENST00000657914.1:n.3528+77_3528+78delinsAT
ENST00000659195.1:n.3312_3313delinsAT
ENST00000661310.1:c.1170+77_1170+78delinsAT	ENSP00000499589.1:n.1170+77_1170+78delinsAT
ENST00000350721.8:c.1170+77_1170+78delinsAT	ENSP00000343741.4:n.1170+77_1170+78delinsAT
ENST00000507148.1:c.106+77_106+78delinsAT	ENSP00000426595.1:n.106+77_106+78delinsAT
ENST00000515149.2:c.213+77_213+78delinsAT	ENSP00000425897.2:n.213+77_213+78delinsAT
NM_001184.3:c.1170+77_1170+78delinsAT	NP_001175.2:n.1170+77_1170+78delinsAT
XM_011512924.1:c.1170+77_1170+78delinsAT	XP_011511226.1:n.1170+77_1170+78delinsAT
XM_011512925.1:c.1170+77_1170+78delinsAT	XP_011511227.1:n.1170+77_1170+78delinsAT
XM_011512926.1:c.1170+77_1170+78delinsAT	XP_011511228.1:n.1170+77_1170+78delinsAT
XM_011512927.1:c.1170+77_1170+78delinsAT	XP_011511229.1:n.1170+77_1170+78delinsAT
XR_924147.1:n.1259+77_1259+78delinsAT
XR_924148.1:n.1259+77_1259+78delinsAT
XR_924149.1:n.1259+77_1259+78delinsAT
NM_001354579.1:c.1170+77_1170+78delinsAT	NP_001341508.1:n.1170+77_1170+78delinsAT
XR_001740179.2:n.1259+77_1259+78delinsAT
XR_001740180.2:n.1259+77_1259+78delinsAT
XR_001740181.2:n.1259+77_1259+78delinsAT
XR_001740182.1:n.1259+77_1259+78delinsAT
XR_002959543.1:n.1259+77_1259+78delinsAT
XR_924148.2:n.1259+77_1259+78delinsAT
NM_001184.4:c.1170+77_1170+78delinsAT MANE Select	NP_001175.2:n.1170+77_1170+78delinsAT
NM_001354579.2:c.1170+77_1170+78delinsAT	NP_001341508.1:n.1170+77_1170+78delinsAT