Canonical Allele Identifier: CA1515641665
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437328_177437329delinsGT , CM000666.2:g.177437328_177437329delinsGT GRCh38
NC_000004.11:g.178358482_178358483delinsGT , CM000666.1:g.178358482_178358483delinsGT GRCh37
NC_000004.10:g.178595476_178595477delinsGT NCBI36
NG_011845.2:g.10175_10176delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.622+76_622+77delinsAC MANE Select ENSP00000264595.2:n.622+76_622+77delinsAC
ENST00000264595.6:c.622+76_622+77delinsAC ENSP00000264595.2:n.622+76_622+77delinsAC
ENST00000502310.5:c.277+76_277+77delinsAC ENSP00000423798.1:n.277+76_277+77delinsAC
ENST00000506853.5:n.656+76_656+77delinsAC
ENST00000510635.1:c.318+76_318+77delinsAC
ENST00000510955.5:n.619_620delinsAC
NM_000027.3:c.622+76_622+77delinsAC NP_000018.2:n.622+76_622+77delinsAC
NM_001171988.1:c.622+76_622+77delinsAC NP_001165459.1:n.622+76_622+77delinsAC
NR_033655.1:n.750+76_750+77delinsAC
XM_006714123.2:c.622+76_622+77delinsAC XP_006714186.1:n.622+76_622+77delinsAC
XR_001741155.2:n.716+76_716+77delinsAC
NM_000027.4:c.622+76_622+77delinsAC MANE Select NP_000018.2:n.622+76_622+77delinsAC
NM_001171988.2:c.622+76_622+77delinsAC NP_001165459.1:n.622+76_622+77delinsAC
NR_033655.2:n.684+76_684+77delinsAC