Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457830_38457834delinsCTCTA , CM000681.2:g.38457830_38457834delinsCTCTA	GRCh38
NC_000019.9:g.38948470_38948474delinsCTCTA , CM000681.1:g.38948470_38948474delinsCTCTA	GRCh37
NC_000019.8:g.43640310_43640314delinsCTCTA	NCBI36
NG_008866.1:g.29131_29135delinsCTCTA , LRG_766:g.29131_29135delinsCTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1925+200_1925+204delinsCTCTA	ENSP00000471601.2:n.1925+200_1925+204delinsCTCTA
ENST00000359596.8:c.1925+200_1925+204delinsCTCTA MANE Select	ENSP00000352608.2:n.1925+200_1925+204delinsCTCTA
ENST00000355481.8:c.1925+200_1925+204delinsCTCTA	ENSP00000347667.3:n.1925+200_1925+204delinsCTCTA
ENST00000359596.7:c.1925+200_1925+204delinsCTCTA	ENSP00000352608.2:n.1925+200_1925+204delinsCTCTA
ENST00000360985.7:c.1925+200_1925+204delinsCTCTA	ENSP00000354254.4:n.1925+200_1925+204delinsCTCTA
NM_000540.2:c.1925+200_1925+204delinsCTCTA , LRG_766t1:c.1925+200_1925+204delinsCTCTA	NP_000531.2:n.1925+200_1925+204delinsCTCTA
NM_001042723.1:c.1925+200_1925+204delinsCTCTA	NP_001036188.1:n.1925+200_1925+204delinsCTCTA
XM_006723317.1:c.1925+200_1925+204delinsCTCTA	XP_006723380.1:n.1925+200_1925+204delinsCTCTA
XM_006723319.1:c.1925+200_1925+204delinsCTCTA	XP_006723382.1:n.1925+200_1925+204delinsCTCTA
XM_011527204.1:c.1922+200_1922+204delinsCTCTA	XP_011525506.1:n.1922+200_1922+204delinsCTCTA
XM_011527205.1:c.1925+200_1925+204delinsCTCTA	XP_011525507.1:n.1925+200_1925+204delinsCTCTA
XM_006723317.2:c.1925+200_1925+204delinsCTCTA	XP_006723380.1:n.1925+200_1925+204delinsCTCTA
XM_006723319.2:c.1925+200_1925+204delinsCTCTA	XP_006723382.1:n.1925+200_1925+204delinsCTCTA
XM_011527205.2:c.1925+200_1925+204delinsCTCTA	XP_011525507.1:n.1925+200_1925+204delinsCTCTA
XR_001753735.1:n.2008+200_2008+204delinsCTCTA
NM_000540.3:c.1925+200_1925+204delinsCTCTA MANE Select	NP_000531.2:n.1925+200_1925+204delinsCTCTA
NM_001042723.2:c.1925+200_1925+204delinsCTCTA	NP_001036188.1:n.1925+200_1925+204delinsCTCTA