Canonical Allele Identifier: CA1181406376

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997820_93997822delinsCCA , CM000663.2:g.93997820_93997822delinsCCA	GRCh38
NC_000001.10:g.94463376_94463378delinsCCA , CM000663.1:g.94463376_94463378delinsCCA	GRCh37
NC_000001.9:g.94235964_94235966delinsCCA	NCBI36
NG_009073.1:g.128328_128330delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+39_6729+41delinsTGG MANE Select	ENSP00000359245.3:n.6729+39_6729+41delinsTGG
ENST00000370225.3:c.6729+39_6729+41delinsTGG	ENSP00000359245.3:n.6729+39_6729+41delinsTGG
ENST00000536513.5:c.3105+39_3105+41delinsTGG	ENSP00000439707.2:n.3105+39_3105+41delinsTGG
NM_000350.2:c.6729+39_6729+41delinsTGG	NP_000341.2:n.6729+39_6729+41delinsTGG
NM_000350.3:c.6729+39_6729+41delinsTGG MANE Select	NP_000341.2:n.6729+39_6729+41delinsTGG