Canonical Allele Identifier: CA1515641990

Gene: AGA

Linked Data

• dbSNP Id: rs1736863681

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437510_177437511del , CM000666.2:g.177437510_177437511del	GRCh38
NC_000004.11:g.178358664_178358665del , CM000666.1:g.178358664_178358665del	GRCh37
NC_000004.10:g.178595658_178595659del	NCBI36
NG_011845.2:g.9993_9994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.516_517del MANE Select	ENSP00000264595.2:p.Pro173ArgfsTer23
ENST00000264595.6:c.516_517del	ENSP00000264595.2:p.Pro173ArgfsTer23
ENST00000502310.5:c.171_172del	ENSP00000423798.1:p.Pro58ArgfsTer23
ENST00000506853.5:n.550_551del
ENST00000510635.1:c.212_213del
ENST00000510955.5:n.437_438del
NM_000027.3:c.516_517del	NP_000018.2:p.Pro173ArgfsTer23
NM_001171988.1:c.516_517del	NP_001165459.1:p.Pro173ArgfsTer23
NR_033655.1:n.644_645del
XM_006714123.2:c.516_517del	XP_006714186.1:p.Pro173ArgfsTer23
XR_001741155.2:n.610_611del
NM_000027.4:c.516_517del MANE Select	NP_000018.2:p.Pro173ArgfsTer23
NM_001171988.2:c.516_517del	NP_001165459.1:p.Pro173ArgfsTer23
NR_033655.2:n.578_579del