Canonical Allele Identifier: CA1181418849
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062700_94062701delinsCA , CM000663.2:g.94062700_94062701delinsCA GRCh38
NC_000001.10:g.94528256_94528257delinsCA , CM000663.1:g.94528256_94528257delinsCA GRCh37
NC_000001.9:g.94300844_94300845delinsCA NCBI36
NG_009073.1:g.63449_63450delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1813_1814delinsTG MANE Select ENSP00000359245.3:p.Trp605=
ENST00000649773.1:c.1813_1814delinsTG ENSP00000496882.1:p.Trp605=
ENST00000370225.3:c.1813_1814delinsTG ENSP00000359245.3:p.Trp605=
ENST00000536513.5:c.-65+473_-65+474delinsTG ENSP00000439707.2:n.-65+473_-65+474delinsTG
NM_000350.2:c.1813_1814delinsTG NP_000341.2:p.Trp605=
NM_000350.3:c.1813_1814delinsTG MANE Select NP_000341.2:p.Trp605=
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