Canonical Allele Identifier: CA2672747282

Gene: AGA

Linked Data

• gnomAD v4: 4-177437655-A-AAAACATATTTTACTTTAAGTCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437656_177437657insAACATATTTTACTTTAAGTCTCA , CM000666.2:g.177437656_177437657insAACATATTTTACTTTAAGTCTCA	GRCh38
NC_000004.11:g.178358810_178358811insAACATATTTTACTTTAAGTCTCA , CM000666.1:g.178358810_178358811insAACATATTTTACTTTAAGTCTCA	GRCh37
NC_000004.10:g.178595804_178595805insAACATATTTTACTTTAAGTCTCA	NCBI36
NG_011845.2:g.9848_9849insGAGACTTAAAGTAAAATATGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-137_508-136insGAGACTTAAAGTAAAATATGTTT MANE Select	ENSP00000264595.2:n.508-137_508-136insGAGACTTAAAGTAAAATATGTTT...
ENST00000264595.6:c.508-137_508-136insGAGACTTAAAGTAAAATATGTTT	ENSP00000264595.2:n.508-137_508-136insGAGACTTAAAGTAAAATATGTTT...
ENST00000502310.5:c.163-137_163-136insGAGACTTAAAGTAAAATATGTTT	ENSP00000423798.1:n.163-137_163-136insGAGACTTAAAGTAAAATATGTTT...
ENST00000506853.5:n.542-137_542-136insGAGACTTAAAGTAAAATATGTTT
ENST00000510635.1:c.204-137_204-136insGAGACTTAAAGTAAAATATGTTT
ENST00000510955.5:n.429-137_429-136insGAGACTTAAAGTAAAATATGTTT
NM_000027.3:c.508-137_508-136insGAGACTTAAAGTAAAATATGTTT	NP_000018.2:n.508-137_508-136insGAGACTTAAAGTAAAATATGTTT
NM_001171988.1:c.508-137_508-136insGAGACTTAAAGTAAAATATGTTT	NP_001165459.1:n.508-137_508-136insGAGACTTAAAGTAAAATATGTTT
NR_033655.1:n.636-137_636-136insGAGACTTAAAGTAAAATATGTTT
XM_006714123.2:c.508-137_508-136insGAGACTTAAAGTAAAATATGTTT	XP_006714186.1:n.508-137_508-136insGAGACTTAAAGTAAAATATGTTT
XR_001741155.2:n.602-137_602-136insGAGACTTAAAGTAAAATATGTTT
NM_000027.4:c.508-137_508-136insGAGACTTAAAGTAAAATATGTTT MANE Select	NP_000018.2:n.508-137_508-136insGAGACTTAAAGTAAAATATGTTT
NM_001171988.2:c.508-137_508-136insGAGACTTAAAGTAAAATATGTTT	NP_001165459.1:n.508-137_508-136insGAGACTTAAAGTAAAATATGTTT
NR_033655.2:n.570-137_570-136insGAGACTTAAAGTAAAATATGTTT