Canonical Allele Identifier: CA1144156552

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046867_94046868delinsCC , CM000663.2:g.94046867_94046868delinsCC	GRCh38
NC_000001.10:g.94512423_94512424delinsCC , CM000663.1:g.94512423_94512424delinsCC	GRCh37
NC_000001.9:g.94285011_94285012delinsCC	NCBI36
NG_009073.1:g.79282_79283delinsGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2918+51_2918+52delinsGG MANE Select	ENSP00000359245.3:n.2918+51_2918+52delins...
ENST00000649773.1:c.2696+51_2696+52delinsGG	ENSP00000496882.1:n.2696+51_2696+52delins...
ENST00000370225.3:c.2918+51_2918+52delinsGG	ENSP00000359245.3:n.2918+51_2918+52delins...
ENST00000536513.5:c.-64-6779_-64-6778delinsGG	ENSP00000439707.2:n.-64-6779_-64-6778deli...
NM_000350.2:c.2918+51_2918+52delinsGG	NP_000341.2:n.2918+51_2918+52delinsGG
NM_000350.3:c.2918+51_2918+52delinsGG MANE Select	NP_000341.2:n.2918+51_2918+52delinsGG