Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968152_21968157delinsGCAGTT , CM000671.2:g.21968152_21968157delinsGCAGTT	GRCh38
NC_000009.11:g.21968151_21968156delinsGCAGTT , CM000671.1:g.21968151_21968156delinsGCAGTT	GRCh37
NC_000009.10:g.21958151_21958156delinsGCAGTT	NCBI36
NG_007485.1:g.31335_31340delinsAACTGC , LRG_11:g.31335_31340delinsAACTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.72_77delinsAACTGC MANE Select	ENSP00000307101.5:n.72_77delinsAACTGC
ENST00000404796.3:c.348-61281_348-61276delinsGCAGTT	ENSP00000385916.2:n.348-61281_348-61276delinsGCAGTT
ENST00000579755.2:c.187_192delinsAACTGC MANE Plus Clinical	ENSP00000462950.1:n.187_192delinsAACTGC
ENST00000304494.9:c.72_77delinsAACTGC	ENSP00000307101.5:n.72_77delinsAACTGC
ENST00000361570.4:c.72_77delinsAACTGC	ENSP00000355153.4:n.72_77delinsAACTGC
ENST00000404796.2:c.348-61281_348-61276delinsGCAGTT	ENSP00000385916.2:n.348-61281_348-61276delinsGCAGTT
ENST00000498124.1:c.236_241delinsAACTGC	ENSP00000418915.1:n.236_241delinsAACTGC
ENST00000498628.6:c.72_77delinsAACTGC	ENSP00000467857.1:n.72_77delinsAACTGC
ENST00000530628.2:c.113_118delinsAACTGC	ENSP00000432664.2:n.113_118delinsAACTGC
ENST00000578845.2:c.72_77delinsAACTGC	ENSP00000467390.1:n.72_77delinsAACTGC
ENST00000579122.1:c.52_57delinsAACTGC	ENSP00000464202.1:n.52_57delinsAACTGC
ENST00000579755.1:c.187_192delinsAACTGC	ENSP00000462950.1:n.187_192delinsAACTGC
NM_000077.4:c.72_77delinsAACTGC , LRG_11t1:c.72_77delinsAACTGC	NP_000068.1:n.72_77delinsAACTGC
NM_001195132.1:c.236_241delinsAACTGC	NP_001182061.1:n.236_241delinsAACTGC
NM_058195.3:c.187_192delinsAACTGC , LRG_11t2:c.187_192delinsAACTGC	NP_478102.2:n.187_192delinsAACTGC
NM_058197.4:c.817_822delinsAACTGC	NP_478104.2:n.817_822delinsAACTGC
XM_005251343.1:c.72_77delinsAACTGC	XP_005251400.1:n.72_77delinsAACTGC
XM_011517679.1:c.72_77delinsAACTGC	XP_011515981.1:n.72_77delinsAACTGC
NM_001363763.1:c.72_77delinsAACTGC	NP_001350692.1:n.72_77delinsAACTGC
NM_001363763.2:c.72_77delinsAACTGC	NP_001350692.1:n.72_77delinsAACTGC
NM_000077.5:c.72_77delinsAACTGC MANE Select	NP_000068.1:n.72_77delinsAACTGC
NM_001195132.2:c.236_241delinsAACTGC	NP_001182061.1:n.236_241delinsAACTGC
NM_058195.4:c.187_192delinsAACTGC MANE Plus Clinical	NP_478102.2:n.187_192delinsAACTGC
NM_058197.5:c.466_471delinsAACTGC	NP_478104.2:n.466_471delinsAACTGC

HGVS	Amino-acid Change
ENST00000304494.10:c.72_77delinsAACTGC MANE Select	ENSP00000307101.5:n.72_77delinsAACTGC
ENST00000404796.3:c.348-61281_348-61276delinsGCAGTT	ENSP00000385916.2:n.348-61281_348-61276delinsGCAGTT
ENST00000579755.2:c.187_192delinsAACTGC MANE Plus Clinical	ENSP00000462950.1:n.187_192delinsAACTGC
ENST00000304494.9:c.72_77delinsAACTGC	ENSP00000307101.5:n.72_77delinsAACTGC
ENST00000361570.4:c.72_77delinsAACTGC	ENSP00000355153.4:n.72_77delinsAACTGC
ENST00000404796.2:c.348-61281_348-61276delinsGCAGTT	ENSP00000385916.2:n.348-61281_348-61276delinsGCAGTT
ENST00000498124.1:c.236_241delinsAACTGC	ENSP00000418915.1:n.236_241delinsAACTGC
ENST00000498628.6:c.72_77delinsAACTGC	ENSP00000467857.1:n.72_77delinsAACTGC
ENST00000530628.2:c.113_118delinsAACTGC	ENSP00000432664.2:n.113_118delinsAACTGC
ENST00000578845.2:c.72_77delinsAACTGC	ENSP00000467390.1:n.72_77delinsAACTGC
ENST00000579122.1:c.52_57delinsAACTGC	ENSP00000464202.1:n.52_57delinsAACTGC
ENST00000579755.1:c.187_192delinsAACTGC	ENSP00000462950.1:n.187_192delinsAACTGC
NM_000077.4:c.72_77delinsAACTGC , LRG_11t1:c.72_77delinsAACTGC	NP_000068.1:n.72_77delinsAACTGC
NM_001195132.1:c.236_241delinsAACTGC	NP_001182061.1:n.236_241delinsAACTGC
NM_058195.3:c.187_192delinsAACTGC , LRG_11t2:c.187_192delinsAACTGC	NP_478102.2:n.187_192delinsAACTGC
NM_058197.4:c.817_822delinsAACTGC	NP_478104.2:n.817_822delinsAACTGC
XM_005251343.1:c.72_77delinsAACTGC	XP_005251400.1:n.72_77delinsAACTGC
XM_011517679.1:c.72_77delinsAACTGC	XP_011515981.1:n.72_77delinsAACTGC
NM_001363763.1:c.72_77delinsAACTGC	NP_001350692.1:n.72_77delinsAACTGC
NM_001363763.2:c.72_77delinsAACTGC	NP_001350692.1:n.72_77delinsAACTGC
NM_000077.5:c.72_77delinsAACTGC MANE Select	NP_000068.1:n.72_77delinsAACTGC
NM_001195132.2:c.236_241delinsAACTGC	NP_001182061.1:n.236_241delinsAACTGC
NM_058195.4:c.187_192delinsAACTGC MANE Plus Clinical	NP_478102.2:n.187_192delinsAACTGC
NM_058197.5:c.466_471delinsAACTGC	NP_478104.2:n.466_471delinsAACTGC