Canonical Allele Identifier: CA2672747154

Gene: AGA

Linked Data

• gnomAD v4: 4-177437520-C-CCTCCAATAATTTGGCTGGCAATTCCGAGCAAGCCAATCTGAATGAAGAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437520_177437521insCTCCAATAATTTGGCTGGCAATTCCGAGCAAGCCAATCTGAATGAAGAGCT , CM000666.2:g.177437520_177437521insCTCCAATAATTTGGCTGGCAATTCCGAGCAAGCCAATCTGAATGAAGAGCT	GRCh38
NC_000004.11:g.178358674_178358675insCTCCAATAATTTGGCTGGCAATTCCGAGCAAGCCAATCTGAATGAAGAGCT , CM000666.1:g.178358674_178358675insCTCCAATAATTTGGCTGGCAATTCCGAGCAAGCCAATCTGAATGAAGAGCT	GRCh37
NC_000004.10:g.178595668_178595669insCTCCAATAATTTGGCTGGCAATTCCGAGCAAGCCAATCTGAATGAAGAGCT	NCBI36
NG_011845.2:g.9983_9984insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG MANE Select	ENSP00000264595.2:n.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCG...
ENST00000264595.6:c.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG	ENSP00000264595.2:n.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCG...
ENST00000502310.5:c.163-2_163-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG	ENSP00000423798.1:n.163-2_163-1insAGCTCTTCATTCAGATTGGCTTGCTCG...
ENST00000506853.5:n.542-2_542-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG
ENST00000510635.1:c.204-2_204-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG
ENST00000510955.5:n.429-2_429-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG
NM_000027.3:c.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG	NP_000018.2:n.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTG...
NM_001171988.1:c.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG	NP_001165459.1:n.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAA...
NR_033655.1:n.636-2_636-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG
XM_006714123.2:c.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG	XP_006714186.1:n.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAA...
XR_001741155.2:n.602-2_602-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG
NM_000027.4:c.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG MANE Select	NP_000018.2:n.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTG...
NM_001171988.2:c.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG	NP_001165459.1:n.508-2_508-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAA...
NR_033655.2:n.570-2_570-1insAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAG