Canonical Allele Identifier: CA913103711

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178363443_178363444del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442289_177442290del , CM000666.2:g.177442289_177442290del	GRCh38
NC_000004.11:g.178363443_178363444del , CM000666.1:g.178363443_178363444del	GRCh37
NC_000004.10:g.178600437_178600438del	NCBI36
NG_011845.2:g.5214_5215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.86_87del MANE Select	ENSP00000264595.2:p.Leu29ArgfsTer8
ENST00000264595.6:c.86_87del	ENSP00000264595.2:p.Leu29ArgfsTer8
ENST00000506853.5:n.120_121del
ENST00000510955.5:n.120_121del
ENST00000511231.1:n.120_121del
NM_000027.3:c.86_87del	NP_000018.2:p.Leu29ArgfsTer8
NM_001171988.1:c.86_87del	NP_001165459.1:p.Leu29ArgfsTer8
NR_033655.1:n.214_215del
XM_006714123.2:c.86_87del	XP_006714186.1:p.Leu29ArgfsTer8
XR_001741155.2:n.180_181del
NM_000027.4:c.86_87del MANE Select	NP_000018.2:p.Leu29ArgfsTer8
NM_001171988.2:c.86_87del	NP_001165459.1:p.Leu29ArgfsTer8
NR_033655.2:n.148_149del