Canonical Allele Identifier: CA1515641676

Gene: AGA

Linked Data

• dbSNP Id: rs1736855606
• gnomAD v4: 4-177437329-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437334_177437336del , CM000666.2:g.177437334_177437336del	GRCh38
NC_000004.11:g.178358488_178358490del , CM000666.1:g.178358488_178358490del	GRCh37
NC_000004.10:g.178595482_178595484del	NCBI36
NG_011845.2:g.10172_10174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+73_622+75del MANE Select	ENSP00000264595.2:n.622+73_622+75del
ENST00000264595.6:c.622+73_622+75del	ENSP00000264595.2:n.622+73_622+75del
ENST00000502310.5:c.277+73_277+75del	ENSP00000423798.1:n.277+73_277+75del
ENST00000506853.5:n.656+73_656+75del
ENST00000510635.1:c.318+73_318+75del
ENST00000510955.5:n.616_618del
NM_000027.3:c.622+73_622+75del	NP_000018.2:n.622+73_622+75del
NM_001171988.1:c.622+73_622+75del	NP_001165459.1:n.622+73_622+75del
NR_033655.1:n.750+73_750+75del
XM_006714123.2:c.622+73_622+75del	XP_006714186.1:n.622+73_622+75del
XR_001741155.2:n.716+73_716+75del
NM_000027.4:c.622+73_622+75del MANE Select	NP_000018.2:n.622+73_622+75del
NM_001171988.2:c.622+73_622+75del	NP_001165459.1:n.622+73_622+75del
NR_033655.2:n.684+73_684+75del