Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13236012_13236016delinsAAAAG , CM000681.2:g.13236012_13236016delinsAAAAG	GRCh38
NC_000019.9:g.13346826_13346830delinsAAAAG , CM000681.1:g.13346826_13346830delinsAAAAG	GRCh37
NC_000019.8:g.13207826_13207830delinsAAAAG	NCBI36
NG_011569.1:g.275445_275449delinsCTTTT , LRG_7:g.275445_275449delinsCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4951-286_4951-282delinsCTTTT MANE Select	ENSP00000353362.5:n.4951-286_4951-282delinsCTTTT
ENST00000573710.7:c.4957-286_4957-282delinsCTTTT	ENSP00000460092.3:n.4957-286_4957-282delinsCTTTT
ENST00000573891.6:c.370-286_370-282delinsCTTTT
ENST00000574822.6:n.175-286_175-282delinsCTTTT
ENST00000585802.6:c.112-286_112-282delinsCTTTT	ENSP00000465598.2:n.112-286_112-282delinsCTTTT
ENST00000635727.1:c.4954-286_4954-282delinsCTTTT	ENSP00000490001.1:n.4954-286_4954-282delinsCTTTT
ENST00000635742.1:n.940-286_940-282delinsCTTTT
ENST00000635895.1:c.4954-286_4954-282delinsCTTTT	ENSP00000490323.1:n.4954-286_4954-282delinsCTTTT
ENST00000636012.1:c.4954-286_4954-282delinsCTTTT	ENSP00000490223.1:n.4954-286_4954-282delinsCTTTT
ENST00000636058.1:c.266-286_266-282delinsCTTTT
ENST00000636389.1:c.4954-286_4954-282delinsCTTTT	ENSP00000489992.1:n.4954-286_4954-282delinsCTTTT
ENST00000636473.1:c.112-286_112-282delinsCTTTT	ENSP00000490173.1:n.112-286_112-282delinsCTTTT
ENST00000636549.1:c.4960-286_4960-282delinsCTTTT	ENSP00000490578.1:n.4960-286_4960-282delinsCTTTT
ENST00000637276.1:c.4954-286_4954-282delinsCTTTT	ENSP00000489777.1:n.4954-286_4954-282delinsCTTTT
ENST00000637297.1:c.247-286_247-282delinsCTTTT	ENSP00000489692.1:n.247-286_247-282delinsCTTTT
ENST00000637432.1:c.4969-286_4969-282delinsCTTTT	ENSP00000490617.1:n.4969-286_4969-282delinsCTTTT
ENST00000637736.1:c.4813-286_4813-282delinsCTTTT	ENSP00000489861.1:n.4813-286_4813-282delinsCTTTT
ENST00000637769.1:c.4954-286_4954-282delinsCTTTT	ENSP00000489778.1:n.4954-286_4954-282delinsCTTTT
ENST00000637777.1:c.211-286_211-282delinsCTTTT
ENST00000637809.1:n.344-286_344-282delinsCTTTT
ENST00000637819.1:c.355-286_355-282delinsCTTTT	ENSP00000490686.1:n.355-286_355-282delinsCTTTT
ENST00000637927.1:c.4957-286_4957-282delinsCTTTT	ENSP00000489715.1:n.4957-286_4957-282delinsCTTTT
ENST00000638009.2:c.4954-286_4954-282delinsCTTTT	ENSP00000489913.1:n.4954-286_4954-282delinsCTTTT
ENST00000638029.1:c.4969-286_4969-282delinsCTTTT	ENSP00000489829.1:n.4969-286_4969-282delinsCTTTT
ENST00000664864.1:c.5155-286_5155-282delinsCTTTT	ENSP00000499449.1:n.5155-286_5155-282delinsCTTTT
ENST00000360228.9:c.4951-286_4951-282delinsCTTTT	ENSP00000353362.5:n.4951-286_4951-282delinsCTTTT
ENST00000573710.6:c.4954-286_4954-282delinsCTTTT	ENSP00000460092.2:n.4954-286_4954-282delinsCTTTT
ENST00000573891.5:c.370-286_370-282delinsCTTTT
ENST00000574822.5:n.175-286_175-282delinsCTTTT
ENST00000585802.5:c.1009-286_1009-282delinsCTTTT	ENSP00000465598.1:n.1009-286_1009-282delinsCTTTT
ENST00000587525.5:c.412-286_412-282delinsCTTTT	ENSP00000467729.1:n.412-286_412-282delinsCTTTT
ENST00000614285.4:c.4969-286_4969-282delinsCTTTT	ENSP00000479983.1:n.4969-286_4969-282delinsCTTTT
NM_000068.3:c.4969-286_4969-282delinsCTTTT	NP_000059.3:n.4969-286_4969-282delinsCTTTT
NM_001127221.1:c.4954-286_4954-282delinsCTTTT , LRG_7t1:c.4954-286_4954-282delinsCTTTT	NP_001120693.1:n.4954-286_4954-282delinsCTTTT
NM_001127222.1:c.4951-286_4951-282delinsCTTTT	NP_001120694.1:n.4951-286_4951-282delinsCTTTT
NM_001174080.1:c.4960-286_4960-282delinsCTTTT	NP_001167551.1:n.4960-286_4960-282delinsCTTTT
NM_023035.2:c.4969-286_4969-282delinsCTTTT	NP_075461.2:n.4969-286_4969-282delinsCTTTT
NM_000068.4:c.4969-286_4969-282delinsCTTTT	NP_000059.3:n.4969-286_4969-282delinsCTTTT
NM_001127222.2:c.4951-286_4951-282delinsCTTTT MANE Select	NP_001120694.1:n.4951-286_4951-282delinsCTTTT
NM_001174080.2:c.4960-286_4960-282delinsCTTTT	NP_001167551.1:n.4960-286_4960-282delinsCTTTT
NM_023035.3:c.4969-286_4969-282delinsCTTTT	NP_075461.2:n.4969-286_4969-282delinsCTTTT
NM_001127221.2:c.4954-286_4954-282delinsCTTTT	NP_001120693.1:n.4954-286_4954-282delinsCTTTT