Canonical Allele Identifier: CA2744617549

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041555_94041556insCAG , CM000663.2:g.94041555_94041556insCAG	GRCh38
NC_000001.10:g.94507111_94507112insCAG , CM000663.1:g.94507111_94507112insCAG	GRCh37
NC_000001.9:g.94279699_94279700insCAG	NCBI36
NG_009073.1:g.84594_84595insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-154_3329-153insCTG MANE Select	ENSP00000359245.3:n.3329-154_3329-153insCTG
ENST00000370225.3:c.3329-154_3329-153insCTG	ENSP00000359245.3:n.3329-154_3329-153insCTG
ENST00000536513.5:c.-64-1467_-64-1466insCTG	ENSP00000439707.2:n.-64-1467_-64-1466insCTG
NM_000350.2:c.3329-154_3329-153insCTG	NP_000341.2:n.3329-154_3329-153insCTG
NM_000350.3:c.3329-154_3329-153insCTG MANE Select	NP_000341.2:n.3329-154_3329-153insCTG