Canonical Allele Identifier: CA1515642217
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437682_177437686delinsCAAAT , CM000666.2:g.177437682_177437686delinsCAAAT GRCh38
NC_000004.11:g.178358836_178358840delinsCAAAT , CM000666.1:g.178358836_178358840delinsCAAAT GRCh37
NC_000004.10:g.178595830_178595834delinsCAAAT NCBI36
NG_011845.2:g.9818_9822delinsATTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-167_508-163delinsATTTG MANE Select ENSP00000264595.2:n.508-167_508-163delinsATTTG
ENST00000264595.6:c.508-167_508-163delinsATTTG ENSP00000264595.2:n.508-167_508-163delinsATTTG
ENST00000502310.5:c.163-167_163-163delinsATTTG ENSP00000423798.1:n.163-167_163-163delinsATTTG
ENST00000506853.5:n.542-167_542-163delinsATTTG
ENST00000510635.1:c.204-167_204-163delinsATTTG
ENST00000510955.5:n.429-167_429-163delinsATTTG
NM_000027.3:c.508-167_508-163delinsATTTG NP_000018.2:n.508-167_508-163delinsATTTG
NM_001171988.1:c.508-167_508-163delinsATTTG NP_001165459.1:n.508-167_508-163delinsATTTG
NR_033655.1:n.636-167_636-163delinsATTTG
XM_006714123.2:c.508-167_508-163delinsATTTG XP_006714186.1:n.508-167_508-163delinsATTTG
XR_001741155.2:n.602-167_602-163delinsATTTG
NM_000027.4:c.508-167_508-163delinsATTTG MANE Select NP_000018.2:n.508-167_508-163delinsATTTG
NM_001171988.2:c.508-167_508-163delinsATTTG NP_001165459.1:n.508-167_508-163delinsATTTG
NR_033655.2:n.570-167_570-163delinsATTTG