Canonical Allele Identifier: CA1515648292

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177441890_177441902delinsGGAGACGTACACA , CM000666.2:g.177441890_177441902delinsGGAGACGTACACA	GRCh38
NC_000004.11:g.178363044_178363056delinsGGAGACGTACACA , CM000666.1:g.178363044_178363056delinsGGAGACGTACACA	GRCh37
NC_000004.10:g.178600038_178600050delinsGGAGACGTACACA	NCBI36
NG_011845.2:g.5602_5614delinsTGTGTACGTCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+347_127+359delinsTGTGTACGTCTCC MANE Select	ENSP00000264595.2:n.127+347_127+359delinsTGTGTACGTCTCC
ENST00000264595.6:c.127+347_127+359delinsTGTGTACGTCTCC	ENSP00000264595.2:n.127+347_127+359delinsTGTGTACGTCTCC
ENST00000506853.5:n.161+347_161+359delinsTGTGTACGTCTCC
ENST00000510955.5:n.161+347_161+359delinsTGTGTACGTCTCC
ENST00000511231.1:n.161+347_161+359delinsTGTGTACGTCTCC
NM_000027.3:c.127+347_127+359delinsTGTGTACGTCTCC	NP_000018.2:n.127+347_127+359delinsTGTGTACGTCTCC
NM_001171988.1:c.127+347_127+359delinsTGTGTACGTCTCC	NP_001165459.1:n.127+347_127+359delinsTGTGTACGTCTCC
NR_033655.1:n.255+347_255+359delinsTGTGTACGTCTCC
XM_006714123.2:c.127+347_127+359delinsTGTGTACGTCTCC	XP_006714186.1:n.127+347_127+359delinsTGTGTACGTCTCC
XR_001741155.2:n.221+347_221+359delinsTGTGTACGTCTCC
NM_000027.4:c.127+347_127+359delinsTGTGTACGTCTCC MANE Select	NP_000018.2:n.127+347_127+359delinsTGTGTACGTCTCC
NM_001171988.2:c.127+347_127+359delinsTGTGTACGTCTCC	NP_001165459.1:n.127+347_127+359delinsTGTGTACGTCTCC
NR_033655.2:n.189+347_189+359delinsTGTGTACGTCTCC