Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867146_35867160delinsAATTCATTATCTCTC , CM000667.2:g.35867146_35867160delinsAATTCATTATCTCTC	GRCh38
NC_000005.9:g.35867248_35867262delinsAATTCATTATCTCTC , CM000667.1:g.35867248_35867262delinsAATTCATTATCTCTC	GRCh37
NC_000005.8:g.35903005_35903019delinsAATTCATTATCTCTC	NCBI36
NG_009567.1:g.15258_15272delinsAATTCATTATCTCTC , LRG_74:g.15258_15272delinsAATTCATTATCTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.222-160_222-146delinsAATTCATTATCTCTC MANE Select	ENSP00000306157.3:n.222-160_222-146delinsAATTCATTATCTCTC
ENST00000303115.7:c.222-160_222-146delinsAATTCATTATCTCTC	ENSP00000306157.3:n.222-160_222-146delinsAATTCATTATCTCTC
ENST00000506850.5:c.222-160_222-146delinsAATTCATTATCTCTC	ENSP00000421207.1:n.222-160_222-146delinsAATTCATTATCTCTC
ENST00000511031.1:n.356-160_356-146delinsAATTCATTATCTCTC
ENST00000511982.1:c.222-160_222-146delinsAATTCATTATCTCTC	ENSP00000425309.1:n.222-160_222-146delinsAATTCATTATCTCTC
ENST00000514217.5:c.222-160_222-146delinsAATTCATTATCTCTC	ENSP00000427688.1:n.222-160_222-146delinsAATTCATTATCTCTC
NM_002185.3:c.222-160_222-146delinsAATTCATTATCTCTC	NP_002176.2:n.222-160_222-146delinsAATTCATTATCTCTC
NR_120485.1:n.325-160_325-146delinsAATTCATTATCTCTC
XM_005248299.2:c.222-160_222-146delinsAATTCATTATCTCTC	XP_005248356.1:n.222-160_222-146delinsAATTCATTATCTCTC
XM_005248300.1:c.222-160_222-146delinsAATTCATTATCTCTC	XP_005248357.1:n.222-160_222-146delinsAATTCATTATCTCTC
XM_011514037.1:c.222-160_222-146delinsAATTCATTATCTCTC	XP_011512339.1:n.222-160_222-146delinsAATTCATTATCTCTC
NM_002185.4:c.222-160_222-146delinsAATTCATTATCTCTC	NP_002176.2:n.222-160_222-146delinsAATTCATTATCTCTC
NR_120485.2:n.351-160_351-146delinsAATTCATTATCTCTC
XM_005248299.4:c.222-160_222-146delinsAATTCATTATCTCTC	XP_005248356.1:n.222-160_222-146delinsAATTCATTATCTCTC
NM_002185.5:c.222-160_222-146delinsAATTCATTATCTCTC MANE Select	NP_002176.2:n.222-160_222-146delinsAATTCATTATCTCTC
NR_120485.3:n.309-160_309-146delinsAATTCATTATCTCTC