Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697136_29697138delinsCAT , CM000684.2:g.29697136_29697138delinsCAT	GRCh38
NC_000022.10:g.30093125_30093127delinsCAT , CM000684.1:g.30093125_30093127delinsCAT	GRCh37
NC_000022.9:g.28423125_28423127delinsCAT	NCBI36
NG_009057.1:g.98581_98583delinsCAT , LRG_511:g.98581_98583delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.2334_2336delinsCAT MANE Select	ENSP00000344666.5:n.2334_2336delinsCAT
ENST00000672461.1:c.502-125_502-123delinsCAT	ENSP00000500919.1:n.502-125_502-123delinsCAT
ENST00000672896.1:c.2394_2396delinsCAT	ENSP00000500117.1:n.2394_2396delinsCAT
ENST00000338641.8:c.2334_2336delinsCAT	ENSP00000344666.4:n.2334_2336delinsCAT
ENST00000361452.8:c.2394_2396delinsCAT	ENSP00000354897.4:n.2394_2396delinsCAT
ENST00000413209.6:c.2334_2336delinsCAT	ENSP00000409921.2:n.2334_2336delinsCAT
NM_000268.3:c.2334_2336delinsCAT , LRG_511t1:c.2334_2336delinsCAT	NP_000259.1:n.2334_2336delinsCAT
NM_016418.5:c.2394_2396delinsCAT , LRG_511t2:c.2394_2396delinsCAT	NP_057502.2:n.2394_2396delinsCAT
NM_181828.2:c.2394_2396delinsCAT	NP_861966.1:n.2394_2396delinsCAT
NM_181829.2:c.2394_2396delinsCAT	NP_861967.1:n.2394_2396delinsCAT
NM_181830.2:c.2394_2396delinsCAT	NP_861968.1:n.2394_2396delinsCAT
NM_181832.2:c.2409_2411delinsCAT	NP_861970.1:n.2409_2411delinsCAT
NM_181833.2:c.2334_2336delinsCAT	NP_861971.1:n.2334_2336delinsCAT
NR_156186.1:n.4681_4683delinsCAT
XM_017028810.1:c.2394_2396delinsCAT	XP_016884299.1:n.2394_2396delinsCAT
NM_000268.4:c.2334_2336delinsCAT MANE Select	NP_000259.1:n.2334_2336delinsCAT
NM_181828.3:c.2394_2396delinsCAT	NP_861966.1:n.2394_2396delinsCAT
NM_181829.3:c.2394_2396delinsCAT	NP_861967.1:n.2394_2396delinsCAT
NM_181830.3:c.2394_2396delinsCAT	NP_861968.1:n.2394_2396delinsCAT
NM_181832.3:c.2409_2411delinsCAT	NP_861970.1:n.2409_2411delinsCAT
NR_156186.2:n.4604_4606delinsCAT
NM_181833.3:c.2334_2336delinsCAT	NP_861971.1:n.2334_2336delinsCAT

HGVS	Amino-acid Change
ENST00000338641.10:c.2334_2336delinsCAT MANE Select	ENSP00000344666.5:n.2334_2336delinsCAT
ENST00000672461.1:c.502-125_502-123delinsCAT	ENSP00000500919.1:n.502-125_502-123delinsCAT
ENST00000672896.1:c.2394_2396delinsCAT	ENSP00000500117.1:n.2394_2396delinsCAT
ENST00000338641.8:c.2334_2336delinsCAT	ENSP00000344666.4:n.2334_2336delinsCAT
ENST00000361452.8:c.2394_2396delinsCAT	ENSP00000354897.4:n.2394_2396delinsCAT
ENST00000413209.6:c.2334_2336delinsCAT	ENSP00000409921.2:n.2334_2336delinsCAT
NM_000268.3:c.2334_2336delinsCAT , LRG_511t1:c.2334_2336delinsCAT	NP_000259.1:n.2334_2336delinsCAT
NM_016418.5:c.2394_2396delinsCAT , LRG_511t2:c.2394_2396delinsCAT	NP_057502.2:n.2394_2396delinsCAT
NM_181828.2:c.2394_2396delinsCAT	NP_861966.1:n.2394_2396delinsCAT
NM_181829.2:c.2394_2396delinsCAT	NP_861967.1:n.2394_2396delinsCAT
NM_181830.2:c.2394_2396delinsCAT	NP_861968.1:n.2394_2396delinsCAT
NM_181832.2:c.2409_2411delinsCAT	NP_861970.1:n.2409_2411delinsCAT
NM_181833.2:c.2334_2336delinsCAT	NP_861971.1:n.2334_2336delinsCAT
NR_156186.1:n.4681_4683delinsCAT
XM_017028810.1:c.2394_2396delinsCAT	XP_016884299.1:n.2394_2396delinsCAT
NM_000268.4:c.2334_2336delinsCAT MANE Select	NP_000259.1:n.2334_2336delinsCAT
NM_181828.3:c.2394_2396delinsCAT	NP_861966.1:n.2394_2396delinsCAT
NM_181829.3:c.2394_2396delinsCAT	NP_861967.1:n.2394_2396delinsCAT
NM_181830.3:c.2394_2396delinsCAT	NP_861968.1:n.2394_2396delinsCAT
NM_181832.3:c.2409_2411delinsCAT	NP_861970.1:n.2409_2411delinsCAT
NR_156186.2:n.4604_4606delinsCAT
NM_181833.3:c.2334_2336delinsCAT	NP_861971.1:n.2334_2336delinsCAT