Allele Registry

HGVS	Genome Assembly
NC_000019.10:g.38494594_38494597delinsCAGG , CM000681.2:g.38494594_38494597delinsCAGG	GRCh38
NC_000019.9:g.38985234_38985237delinsCAGG , CM000681.1:g.38985234_38985237delinsCAGG	GRCh37
NC_000019.8:g.43677074_43677077delinsCAGG	NCBI36
NG_008866.1:g.65895_65898delinsCAGG , LRG_766:g.65895_65898delinsCAGG

HGVS	Amino-acid Change
ENST00000599547.6:c.6517_6520delinsCAGG	ENSP00000471601.2:p.Gln2173=
ENST00000359596.8:c.6517_6520delinsCAGG MANE Select	ENSP00000352608.2:p.Gln2173=
ENST00000355481.8:c.6517_6520delinsCAGG	ENSP00000347667.3:p.Gln2173=
ENST00000359596.7:c.6517_6520delinsCAGG	ENSP00000352608.2:p.Gln2173=
ENST00000360985.7:c.6514_6517delinsCAGG	ENSP00000354254.4:p.Gln2172=
NM_000540.2:c.6517_6520delinsCAGG , LRG_766t1:c.6517_6520delinsCAGG	NP_000531.2:p.Gln2173=
NM_001042723.1:c.6517_6520delinsCAGG	NP_001036188.1:p.Gln2173=
XM_006723317.1:c.6517_6520delinsCAGG	XP_006723380.1:p.Gln2173=
XM_006723319.1:c.6517_6520delinsCAGG	XP_006723382.1:p.Gln2173=
XM_011527204.1:c.6514_6517delinsCAGG	XP_011525506.1:p.Gln2172=
XM_011527205.1:c.6517_6520delinsCAGG	XP_011525507.1:p.Gln2173=
XM_006723317.2:c.6517_6520delinsCAGG	XP_006723380.1:p.Gln2173=
XM_006723319.2:c.6517_6520delinsCAGG	XP_006723382.1:p.Gln2173=
XM_011527205.2:c.6517_6520delinsCAGG	XP_011525507.1:p.Gln2173=
XR_001753735.1:n.6600_6603delinsCAGG
NM_000540.3:c.6517_6520delinsCAGG MANE Select	NP_000531.2:p.Gln2173=
NM_001042723.2:c.6517_6520delinsCAGG	NP_001036188.1:p.Gln2173=