Canonical Allele Identifier: CA2672747080

Gene: AGA

Linked Data

• gnomAD v4: 4-177437272-CTATCTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437273_177437279del , CM000666.2:g.177437273_177437279del	GRCh38
NC_000004.11:g.178358427_178358433del , CM000666.1:g.178358427_178358433del	GRCh37
NC_000004.10:g.178595421_178595427del	NCBI36
NG_011845.2:g.10225_10231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+126_622+132del MANE Select	ENSP00000264595.2:n.622+126_622+132del
ENST00000264595.6:c.622+126_622+132del	ENSP00000264595.2:n.622+126_622+132del
ENST00000502310.5:c.277+126_277+132del	ENSP00000423798.1:n.277+126_277+132del
ENST00000506853.5:n.656+126_656+132del
ENST00000510635.1:c.318+126_318+132del
ENST00000510955.5:n.669_675del
NM_000027.3:c.622+126_622+132del	NP_000018.2:n.622+126_622+132del
NM_001171988.1:c.622+126_622+132del	NP_001165459.1:n.622+126_622+132del
NR_033655.1:n.750+126_750+132del
XM_006714123.2:c.622+126_622+132del	XP_006714186.1:n.622+126_622+132del
XR_001741155.2:n.716+126_716+132del
NM_000027.4:c.622+126_622+132del MANE Select	NP_000018.2:n.622+126_622+132del
NM_001171988.2:c.622+126_622+132del	NP_001165459.1:n.622+126_622+132del
NR_033655.2:n.684+126_684+132del