Canonical Allele Identifier: CA2740601532

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437501_177437502insTATGTATTCTAGTTGTTTTT , CM000666.2:g.177437501_177437502insTATGTATTCTAGTTGTTTTT	GRCh38
NC_000004.11:g.178358655_178358656insTATGTATTCTAGTTGTTTTT , CM000666.1:g.178358655_178358656insTATGTATTCTAGTTGTTTTT	GRCh37
NC_000004.10:g.178595649_178595650insTATGTATTCTAGTTGTTTTT	NCBI36
NG_011845.2:g.10002_10003insAAAAACAACTAGAATACATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.525_526insAAAAACAACTAGAATACATA MANE Select	ENSP00000264595.2:p.Ser176LysfsTer4
ENST00000264595.6:c.525_526insAAAAACAACTAGAATACATA	ENSP00000264595.2:p.Ser176LysfsTer4
ENST00000502310.5:c.180_181insAAAAACAACTAGAATACATA	ENSP00000423798.1:p.Ser61LysfsTer4
ENST00000506853.5:n.559_560insAAAAACAACTAGAATACATA
ENST00000510635.1:c.221_222insAAAAACAACTAGAATACATA
ENST00000510955.5:n.446_447insAAAAACAACTAGAATACATA
NM_000027.3:c.525_526insAAAAACAACTAGAATACATA	NP_000018.2:p.Ser176LysfsTer4
NM_001171988.1:c.525_526insAAAAACAACTAGAATACATA	NP_001165459.1:p.Ser176LysfsTer4
NR_033655.1:n.653_654insAAAAACAACTAGAATACATA
XM_006714123.2:c.525_526insAAAAACAACTAGAATACATA	XP_006714186.1:p.Ser176LysfsTer4
XR_001741155.2:n.619_620insAAAAACAACTAGAATACATA
NM_000027.4:c.525_526insAAAAACAACTAGAATACATA MANE Select	NP_000018.2:p.Ser176LysfsTer4
NM_001171988.2:c.525_526insAAAAACAACTAGAATACATA	NP_001165459.1:p.Ser176LysfsTer4
NR_033655.2:n.587_588insAAAAACAACTAGAATACATA