Canonical Allele Identifier: CA1515649690

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442379_177442391delinsTGACCACCGAAGA , CM000666.2:g.177442379_177442391delinsTGACCACCGAAGA	GRCh38
NC_000004.11:g.178363533_178363545delinsTGACCACCGAAGA , CM000666.1:g.178363533_178363545delinsTGACCACCGAAGA	GRCh37
NC_000004.10:g.178600527_178600539delinsTGACCACCGAAGA	NCBI36
NG_011845.2:g.5113_5125delinsTCTTCGGTGGTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.-16_-4delinsTCTTCGGTGGTCA MANE Select	ENSP00000264595.2:n.-16_-4delinsTCTTCGGTG...
ENST00000264595.6:c.-16_-4delinsTCTTCGGTGGTCA	ENSP00000264595.2:n.-16_-4delinsTCTTCGGTG...
ENST00000506853.5:n.19_31delinsTCTTCGGTGGTCA
ENST00000510955.5:n.19_31delinsTCTTCGGTGGTCA
ENST00000511231.1:n.19_31delinsTCTTCGGTGGTCA
NM_000027.3:c.-16_-4delinsTCTTCGGTGGTCA	NP_000018.2:n.-16_-4delinsTCTTCGGTGGTCA
NM_001171988.1:c.-16_-4delinsTCTTCGGTGGTCA	NP_001165459.1:n.-16_-4delinsTCTTCGGTGGTC...
NR_033655.1:n.113_125delinsTCTTCGGTGGTCA
XM_006714123.2:c.-16_-4delinsTCTTCGGTGGTCA	XP_006714186.1:n.-16_-4delinsTCTTCGGTGGTC...
XR_001741155.2:n.79_91delinsTCTTCGGTGGTCA
NM_000027.4:c.-16_-4delinsTCTTCGGTGGTCA MANE Select	NP_000018.2:n.-16_-4delinsTCTTCGGTGGTCA
NM_001171988.2:c.-16_-4delinsTCTTCGGTGGTCA	NP_001165459.1:n.-16_-4delinsTCTTCGGTGGTC...
NR_033655.2:n.47_59delinsTCTTCGGTGGTCA