Canonical Allele Identifier: CA2672747587

Gene: AGA

Linked Data

• gnomAD v4: 4-177438851-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438852del , CM000666.2:g.177438852del	GRCh38
NC_000004.11:g.178360006del , CM000666.1:g.178360006del	GRCh37
NC_000004.10:g.178597000del	NCBI36
NG_011845.2:g.8652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.400del MANE Select	ENSP00000264595.2:p.Thr134HisfsTer?
ENST00000264595.6:c.400del	ENSP00000264595.2:p.Thr134HisfsTer?
ENST00000502310.5:c.55del	ENSP00000423798.1:p.Thr19HisfsTer?
ENST00000506853.5:n.434del
ENST00000510635.1:c.96del
ENST00000510955.5:n.321del
NM_000027.3:c.400del	NP_000018.2:p.Thr134HisfsTer?
NM_001171988.1:c.400del	NP_001165459.1:p.Thr134HisfsTer?
NR_033655.1:n.528del
XM_006714123.2:c.400del	XP_006714186.1:p.Thr134HisfsTer?
XR_001741155.2:n.494del
NM_000027.4:c.400del MANE Select	NP_000018.2:p.Thr134HisfsTer?
NM_001171988.2:c.400del	NP_001165459.1:p.Thr134HisfsTer?
NR_033655.2:n.462del