Canonical Allele Identifier: CA3146924

Gene: AGA

Linked Data

• dbSNP Id: rs772742442
• ExAC: 4:178360045 T / TGGAGGGTATGCA
• MyVariant Identifiers: chr4:g.178360045_178360046insGGAGGGTATGCA (hg19) ; chr4:g.177438891_177438892insGGAGGGTATGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438891_177438892insGGAGGGTATGCA , CM000666.2:g.177438891_177438892insGGAGGGTATGCA	GRCh38
NC_000004.11:g.178360045_178360046insGGAGGGTATGCA , CM000666.1:g.178360045_178360046insGGAGGGTATGCA	GRCh37
NC_000004.10:g.178597039_178597040insGGAGGGTATGCA	NCBI36
NG_011845.2:g.8612_8613insTGCATACCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.395-35_395-34insTGCATACCCTCC MANE Select	ENSP00000264595.2:n.395-35_395-34insTGCATACCCTCC
ENST00000264595.6:c.395-35_395-34insTGCATACCCTCC	ENSP00000264595.2:n.395-35_395-34insTGCATACCCTCC
ENST00000502310.5:c.50-35_50-34insTGCATACCCTCC	ENSP00000423798.1:n.50-35_50-34insTGCATACCCTCC
ENST00000506853.5:n.429-35_429-34insTGCATACCCTCC
ENST00000510635.1:c.91-35_91-34insTGCATACCCTCC
ENST00000510955.5:n.316-35_316-34insTGCATACCCTCC
NM_000027.3:c.395-35_395-34insTGCATACCCTCC	NP_000018.2:n.395-35_395-34insTGCATACCCTCC
NM_001171988.1:c.395-35_395-34insTGCATACCCTCC	NP_001165459.1:n.395-35_395-34insTGCATACCCTCC
NR_033655.1:n.523-35_523-34insTGCATACCCTCC
XM_006714123.2:c.395-35_395-34insTGCATACCCTCC	XP_006714186.1:n.395-35_395-34insTGCATACCCTCC
XR_001741155.2:n.489-35_489-34insTGCATACCCTCC
NM_000027.4:c.395-35_395-34insTGCATACCCTCC MANE Select	NP_000018.2:n.395-35_395-34insTGCATACCCTCC
NM_001171988.2:c.395-35_395-34insTGCATACCCTCC	NP_001165459.1:n.395-35_395-34insTGCATACCCTCC
NR_033655.2:n.457-35_457-34insTGCATACCCTCC