Canonical Allele Identifier: CA2646644798

Gene: ABCA4

Linked Data

• gnomAD v4: 1-93997809-GGTGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997810_93997814del , CM000663.2:g.93997810_93997814del	GRCh38
NC_000001.10:g.94463366_94463370del , CM000663.1:g.94463366_94463370del	GRCh37
NC_000001.9:g.94235954_94235958del	NCBI36
NG_009073.1:g.128336_128340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+47_6729+51del MANE Select	ENSP00000359245.3:n.6729+47_6729+51del
ENST00000370225.3:c.6729+47_6729+51del	ENSP00000359245.3:n.6729+47_6729+51del
ENST00000536513.5:c.3105+47_3105+51del	ENSP00000439707.2:n.3105+47_3105+51del
NM_000350.2:c.6729+47_6729+51del	NP_000341.2:n.6729+47_6729+51del
NM_000350.3:c.6729+47_6729+51del MANE Select	NP_000341.2:n.6729+47_6729+51del