Canonical Allele Identifier: CA1515644462

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439454_177439457delinsATGT , CM000666.2:g.177439454_177439457delinsATGT	GRCh38
NC_000004.11:g.178360608_178360611delinsATGT , CM000666.1:g.178360608_178360611delinsATGT	GRCh37
NC_000004.10:g.178597602_178597605delinsATGT	NCBI36
NG_011845.2:g.8047_8050delinsACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+119_394+122delinsACAT MANE Select	ENSP00000264595.2:n.394+119_394+122delinsACAT
ENST00000264595.6:c.394+119_394+122delinsACAT	ENSP00000264595.2:n.394+119_394+122delinsACAT
ENST00000502310.5:c.49+119_49+122delinsACAT	ENSP00000423798.1:n.49+119_49+122delinsACAT
ENST00000506853.5:n.428+119_428+122delinsACAT
ENST00000510635.1:c.90+119_90+122delinsACAT
ENST00000510955.5:n.316-600_316-597delinsACAT
NM_000027.3:c.394+119_394+122delinsACAT	NP_000018.2:n.394+119_394+122delinsACAT
NM_001171988.1:c.394+119_394+122delinsACAT	NP_001165459.1:n.394+119_394+122delinsACAT
NR_033655.1:n.522+119_522+122delinsACAT
XM_006714123.2:c.394+119_394+122delinsACAT	XP_006714186.1:n.394+119_394+122delinsACAT
XR_001741155.2:n.488+119_488+122delinsACAT
NM_000027.4:c.394+119_394+122delinsACAT MANE Select	NP_000018.2:n.394+119_394+122delinsACAT
NM_001171988.2:c.394+119_394+122delinsACAT	NP_001165459.1:n.394+119_394+122delinsACAT
NR_033655.2:n.456+119_456+122delinsACAT