Canonical Allele Identifier: CA1515637966
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434638_177434640delinsATT , CM000666.2:g.177434638_177434640delinsATT GRCh38
NC_000004.11:g.178355792_178355794delinsATT , CM000666.1:g.178355792_178355794delinsATT GRCh37
NC_000004.10:g.178592786_178592788delinsATT NCBI36
NG_011845.2:g.12864_12866delinsAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.699-151_699-149delinsAAT MANE Select ENSP00000264595.2:n.699-151_699-149delinsAAT
ENST00000264595.6:c.699-151_699-149delinsAAT ENSP00000264595.2:n.699-151_699-149delinsAAT
ENST00000502310.5:c.278-159_278-157delinsAAT ENSP00000423798.1:n.278-159_278-157delinsAAT
ENST00000506853.5:n.657-151_657-149delinsAAT
ENST00000510635.1:c.373-159_373-157delinsAAT
NM_000027.3:c.699-151_699-149delinsAAT NP_000018.2:n.699-151_699-149delinsAAT
NM_001171988.1:c.677-159_677-157delinsAAT NP_001165459.1:n.677-159_677-157delinsAAT
NR_033655.1:n.751-151_751-149delinsAAT
XM_006714123.2:c.677-151_677-149delinsAAT XP_006714186.1:n.677-151_677-149delinsAAT
XR_001741155.2:n.771-151_771-149delinsAAT
NM_000027.4:c.699-151_699-149delinsAAT MANE Select NP_000018.2:n.699-151_699-149delinsAAT
NM_001171988.2:c.677-159_677-157delinsAAT NP_001165459.1:n.677-159_677-157delinsAAT
NR_033655.2:n.685-151_685-149delinsAAT