Allele Registry

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Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47283669_47283670delinsAG , CM000679.2:g.47283669_47283670delinsAG	GRCh38
NC_000017.10:g.45361035_45361036delinsAG , CM000679.1:g.45361035_45361036delinsAG	GRCh37
NC_000017.9:g.42716034_42716035delinsAG	NCBI36
NG_008332.2:g.34828_34829delinsAG , LRG_481:g.34828_34829delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.361+120_361+121delinsAG	ENSP00000513002.1:n.361+120_361+121delinsAG
ENST00000559488.7:c.361+120_361+121delinsAG MANE Select	ENSP00000452786.2:n.361+120_361+121delinsAG
ENST00000559488.5:c.361+120_361+121delinsAG	ENSP00000452786.1:n.361+120_361+121delinsAG
ENST00000560629.1:c.326+120_326+121delinsAG
ENST00000571680.1:c.361+120_361+121delinsAG	ENSP00000461626.1:n.361+120_361+121delinsAG
NM_000212.2:c.361+120_361+121delinsAG , LRG_481t1:c.361+120_361+121delinsAG	NP_000203.2:n.361+120_361+121delinsAG
NM_000212.3:c.361+120_361+121delinsAG MANE Select	NP_000203.2:n.361+120_361+121delinsAG