Allele Registry

HGVS	Genome Assembly
NC_000019.10:g.38502799_38502800insCGGGCA , CM000681.2:g.38502799_38502800insCGGGCA	GRCh38
NC_000019.9:g.38993439_38993440insCGGGCA , CM000681.1:g.38993439_38993440insCGGGCA	GRCh37
NC_000019.8:g.43685279_43685280insCGGGCA	NCBI36
NG_008866.1:g.74100_74101insCGGGCA , LRG_766:g.74100_74101insCGGGCA

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+72_7835+73insCGGGCA	ENSP00000471601.2:n.7835+72_7835+73insCGGGCA
ENST00000359596.8:c.7835+72_7835+73insCGGGCA MANE Select	ENSP00000352608.2:n.7835+72_7835+73insCGGGCA
ENST00000355481.8:c.7835+72_7835+73insCGGGCA	ENSP00000347667.3:n.7835+72_7835+73insCGGGCA
ENST00000359596.7:c.7835+72_7835+73insCGGGCA	ENSP00000352608.2:n.7835+72_7835+73insCGGGCA
ENST00000360985.7:c.7832+72_7832+73insCGGGCA	ENSP00000354254.4:n.7832+72_7832+73insCGGGCA
ENST00000594335.5:c.1287+72_1287+73insCGGGCA
NM_000540.2:c.7835+72_7835+73insCGGGCA , LRG_766t1:c.7835+72_7835+73insCGGGCA	NP_000531.2:n.7835+72_7835+73insCGGGCA
NM_001042723.1:c.7835+72_7835+73insCGGGCA	NP_001036188.1:n.7835+72_7835+73insCGGGCA
XM_006723317.1:c.7835+72_7835+73insCGGGCA	XP_006723380.1:n.7835+72_7835+73insCGGGCA
XM_006723319.1:c.7835+72_7835+73insCGGGCA	XP_006723382.1:n.7835+72_7835+73insCGGGCA
XM_011527204.1:c.7832+72_7832+73insCGGGCA	XP_011525506.1:n.7832+72_7832+73insCGGGCA
XM_011527205.1:c.7835+72_7835+73insCGGGCA	XP_011525507.1:n.7835+72_7835+73insCGGGCA
XM_006723317.2:c.7835+72_7835+73insCGGGCA	XP_006723380.1:n.7835+72_7835+73insCGGGCA
XM_006723319.2:c.7835+72_7835+73insCGGGCA	XP_006723382.1:n.7835+72_7835+73insCGGGCA
XM_011527205.2:c.7835+72_7835+73insCGGGCA	XP_011525507.1:n.7835+72_7835+73insCGGGCA
XR_001753735.1:n.7918+72_7918+73insCGGGCA
NM_000540.3:c.7835+72_7835+73insCGGGCA MANE Select	NP_000531.2:n.7835+72_7835+73insCGGGCA
NM_001042723.2:c.7835+72_7835+73insCGGGCA	NP_001036188.1:n.7835+72_7835+73insCGGGCA