Canonical Allele Identifier: CA913103709

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360813_178360816del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439659_177439662del , CM000666.2:g.177439659_177439662del	GRCh38
NC_000004.11:g.178360813_178360816del , CM000666.1:g.178360813_178360816del	GRCh37
NC_000004.10:g.178597807_178597810del	NCBI36
NG_011845.2:g.7842_7845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.308_311del MANE Select	ENSP00000264595.2:p.Gly103ValfsTer24
ENST00000264595.6:c.308_311del	ENSP00000264595.2:p.Gly103ValfsTer24
ENST00000506853.5:n.342_345del
ENST00000510635.1:c.4_7del
ENST00000510955.5:n.315+611_315+614del
NM_000027.3:c.308_311del	NP_000018.2:p.Gly103ValfsTer24
NM_001171988.1:c.308_311del	NP_001165459.1:p.Gly103ValfsTer24
NR_033655.1:n.436_439del
XM_006714123.2:c.308_311del	XP_006714186.1:p.Gly103ValfsTer24
XR_001741155.2:n.402_405del
NM_000027.4:c.308_311del MANE Select	NP_000018.2:p.Gly103ValfsTer24
NM_001171988.2:c.308_311del	NP_001165459.1:p.Gly103ValfsTer24
NR_033655.2:n.370_373del