Canonical Allele Identifier: CA2338594236
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766399_45766400delinsGT , CM000681.2:g.45766399_45766400delinsGT GRCh38
NC_000019.9:g.46269657_46269658delinsGT , CM000681.1:g.46269657_46269658delinsGT GRCh37
NC_000019.8:g.50961497_50961498delinsGT NCBI36
NG_012745.1:g.7840_7841delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1559_1560delinsAC MANE Select ENSP00000316842.4:p.Asn520=
ENST00000317578.6:c.1559_1560delinsAC ENSP00000316842.4:p.Asn520=
ENST00000560160.1:c.587-289_587-288delinsAC
ENST00000560168.1:c.*747_*748delinsAC ENSP00000453189.2:n.*747_*748delinsAC
ENST00000622857.1:c.16-438_16-437delinsAC ENSP00000481365.1:n.16-438_16-437delinsAC
NM_175875.4:c.1559_1560delinsAC NP_787071.2:p.Asn520=
NM_175875.5:c.1559_1560delinsAC MANE Select NP_787071.3:p.Asn520=