Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152101205_152101206delinsTG , CM000668.2:g.152101205_152101206delinsTG	GRCh38
NC_000006.11:g.152422340_152422341delinsTG , CM000668.1:g.152422340_152422341delinsTG	GRCh37
NC_000006.10:g.152464033_152464034delinsTG	NCBI36
NG_008493.1:g.415710_415711delinsTG
NG_008493.2:g.449515_449516delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000206249.8:c.2239_2240delinsTG MANE Select	ENSP00000206249.3:n.2239_2240delinsTG
ENST00000641399.1:n.1070+2285_1070+2286delinsTG
ENST00000206249.7:c.2239_2240delinsTG	ENSP00000206249.3:n.2239_2240delinsTG
ENST00000427531.6:c.851-24061_851-24060delinsTG	ENSP00000394721.2:n.851-24061_851-24060de...
ENST00000440973.5:c.2239_2240delinsTG	ENSP00000405330.1:n.2239_2240delinsTG
ENST00000443427.5:c.2239_2240delinsTG	ENSP00000387500.1:n.2239_2240delinsTG
NM_000125.3:c.2239_2240delinsTG	NP_000116.2:n.2239_2240delinsTG
NM_001122740.1:c.2239_2240delinsTG	NP_001116212.1:n.2239_2240delinsTG
NM_001122741.1:c.2239_2240delinsTG	NP_001116213.1:n.2239_2240delinsTG
NM_001122742.1:c.2239_2240delinsTG	NP_001116214.1:n.2239_2240delinsTG
NM_001291230.1:c.2239_2240delinsTG	NP_001278159.1:n.2239_2240delinsTG
NM_001291241.1:c.2239_2240delinsTG	NP_001278170.1:n.2239_2240delinsTG
XM_006715374.2:c.2442_2443delinsTG	XP_006715437.1:n.2442_2443delinsTG
XM_006715375.2:c.2239_2240delinsTG	XP_006715438.1:n.2239_2240delinsTG
XM_011535543.1:c.2239_2240delinsTG	XP_011533845.1:n.2239_2240delinsTG
XM_011535544.1:c.2239_2240delinsTG	XP_011533846.1:n.2239_2240delinsTG
XM_011535545.1:c.2239_2240delinsTG	XP_011533847.1:n.2239_2240delinsTG
XM_011535546.1:c.2239_2240delinsTG	XP_011533848.1:n.2239_2240delinsTG
XM_011535548.1:c.2239_2240delinsTG	XP_011533850.1:n.2239_2240delinsTG
XM_011535549.1:c.2239_2240delinsTG	XP_011533851.1:n.2239_2240delinsTG
NM_001328100.1:c.851-24061_851-24060delinsTG	NP_001315029.1:n.851-24061_851-24060delin...
XM_006715374.3:c.2442_2443delinsTG	XP_006715437.1:n.2442_2443delinsTG
NM_000125.4:c.2239_2240delinsTG MANE Select	NP_000116.2:n.2239_2240delinsTG
NM_001328100.2:c.851-24061_851-24060delinsTG	NP_001315029.1:n.851-24061_851-24060delin...
NM_001122740.2:c.2239_2240delinsTG	NP_001116212.1:n.2239_2240delinsTG
NM_001122741.2:c.2239_2240delinsTG	NP_001116213.1:n.2239_2240delinsTG
NM_001122742.2:c.2239_2240delinsTG	NP_001116214.1:n.2239_2240delinsTG
NM_001291230.2:c.2239_2240delinsTG	NP_001278159.1:n.2239_2240delinsTG
NM_001291241.2:c.2239_2240delinsTG	NP_001278170.1:n.2239_2240delinsTG
NM_001385568.1:c.2239_2240delinsTG	NP_001372497.1:n.2239_2240delinsTG
NM_001385569.1:c.2239_2240delinsTG	NP_001372498.1:n.2239_2240delinsTG
NM_001385570.1:c.2442_2443delinsTG	NP_001372499.1:n.2442_2443delinsTG
NM_001385571.1:c.2442_2443delinsTG	NP_001372500.1:n.2442_2443delinsTG
NM_001385572.1:c.2442_2443delinsTG	NP_001372501.1:n.2442_2443delinsTG

HGVS	Amino-acid change
ENST00000206249.8:c.2239_2240delinsTG MANE Select	ENSP00000206249.3:n.2239_2240delinsTG
ENST00000641399.1:n.1070+2285_1070+2286delinsTG
ENST00000206249.7:c.2239_2240delinsTG	ENSP00000206249.3:n.2239_2240delinsTG
ENST00000427531.6:c.851-24061_851-24060delinsTG	ENSP00000394721.2:n.851-24061_851-24060de...
ENST00000440973.5:c.2239_2240delinsTG	ENSP00000405330.1:n.2239_2240delinsTG
ENST00000443427.5:c.2239_2240delinsTG	ENSP00000387500.1:n.2239_2240delinsTG
NM_000125.3:c.2239_2240delinsTG	NP_000116.2:n.2239_2240delinsTG
NM_001122740.1:c.2239_2240delinsTG	NP_001116212.1:n.2239_2240delinsTG
NM_001122741.1:c.2239_2240delinsTG	NP_001116213.1:n.2239_2240delinsTG
NM_001122742.1:c.2239_2240delinsTG	NP_001116214.1:n.2239_2240delinsTG
NM_001291230.1:c.2239_2240delinsTG	NP_001278159.1:n.2239_2240delinsTG
NM_001291241.1:c.2239_2240delinsTG	NP_001278170.1:n.2239_2240delinsTG
XM_006715374.2:c.2442_2443delinsTG	XP_006715437.1:n.2442_2443delinsTG
XM_006715375.2:c.2239_2240delinsTG	XP_006715438.1:n.2239_2240delinsTG
XM_011535543.1:c.2239_2240delinsTG	XP_011533845.1:n.2239_2240delinsTG
XM_011535544.1:c.2239_2240delinsTG	XP_011533846.1:n.2239_2240delinsTG
XM_011535545.1:c.2239_2240delinsTG	XP_011533847.1:n.2239_2240delinsTG
XM_011535546.1:c.2239_2240delinsTG	XP_011533848.1:n.2239_2240delinsTG
XM_011535548.1:c.2239_2240delinsTG	XP_011533850.1:n.2239_2240delinsTG
XM_011535549.1:c.2239_2240delinsTG	XP_011533851.1:n.2239_2240delinsTG
NM_001328100.1:c.851-24061_851-24060delinsTG	NP_001315029.1:n.851-24061_851-24060delin...
XM_006715374.3:c.2442_2443delinsTG	XP_006715437.1:n.2442_2443delinsTG
NM_000125.4:c.2239_2240delinsTG MANE Select	NP_000116.2:n.2239_2240delinsTG
NM_001328100.2:c.851-24061_851-24060delinsTG	NP_001315029.1:n.851-24061_851-24060delin...
NM_001122740.2:c.2239_2240delinsTG	NP_001116212.1:n.2239_2240delinsTG
NM_001122741.2:c.2239_2240delinsTG	NP_001116213.1:n.2239_2240delinsTG
NM_001122742.2:c.2239_2240delinsTG	NP_001116214.1:n.2239_2240delinsTG
NM_001291230.2:c.2239_2240delinsTG	NP_001278159.1:n.2239_2240delinsTG
NM_001291241.2:c.2239_2240delinsTG	NP_001278170.1:n.2239_2240delinsTG
NM_001385568.1:c.2239_2240delinsTG	NP_001372497.1:n.2239_2240delinsTG
NM_001385569.1:c.2239_2240delinsTG	NP_001372498.1:n.2239_2240delinsTG
NM_001385570.1:c.2442_2443delinsTG	NP_001372499.1:n.2442_2443delinsTG
NM_001385571.1:c.2442_2443delinsTG	NP_001372500.1:n.2442_2443delinsTG
NM_001385572.1:c.2442_2443delinsTG	NP_001372501.1:n.2442_2443delinsTG