Canonical Allele Identifier: CA2672747483

Gene: AGA

Linked Data

• gnomAD v4: 4-177438739-GCATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438741_177438744del , CM000666.2:g.177438741_177438744del	GRCh38
NC_000004.11:g.178359895_178359898del , CM000666.1:g.178359895_178359898del	GRCh37
NC_000004.10:g.178596889_178596892del	NCBI36
NG_011845.2:g.8761_8764del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.507+2_507+5del MANE Select	ENSP00000264595.2:n.507+2_507+5del
ENST00000264595.6:c.507+2_507+5del	ENSP00000264595.2:n.507+2_507+5del
ENST00000502310.5:c.162+2_162+5del	ENSP00000423798.1:n.162+2_162+5del
ENST00000506853.5:n.541+2_541+5del
ENST00000510635.1:c.203+2_203+5del
ENST00000510955.5:n.428+2_428+5del
NM_000027.3:c.507+2_507+5del	NP_000018.2:n.507+2_507+5del
NM_001171988.1:c.507+2_507+5del	NP_001165459.1:n.507+2_507+5del
NR_033655.1:n.635+2_635+5del
XM_006714123.2:c.507+2_507+5del	XP_006714186.1:n.507+2_507+5del
XR_001741155.2:n.601+2_601+5del
NM_000027.4:c.507+2_507+5del MANE Select	NP_000018.2:n.507+2_507+5del
NM_001171988.2:c.507+2_507+5del	NP_001165459.1:n.507+2_507+5del
NR_033655.2:n.569+2_569+5del