Canonical Allele Identifier: CA627589126

Gene: ABCA5

Linked Data

• dbSNP Id: rs1300910364
• gnomAD v2: 17-67250085-ATGT-A
• gnomAD v3: 17-69253944-ATGT-A
• gnomAD v4: 17-69253944-ATGT-A
• MyVariant Identifiers: chr17:g.67250086_67250088del (hg19) ; chr17:g.69253945_69253947del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253949_69253951del , CM000679.2:g.69253949_69253951del	GRCh38
NC_000017.10:g.67250090_67250092del , CM000679.1:g.67250090_67250092del	GRCh37
NC_000017.9:g.64761685_64761687del	NCBI36
NG_034199.1:g.78236_78238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4245-78_4245-76del MANE Select	ENSP00000376443.2:n.4245-78_4245-76del
ENST00000392676.7:c.4245-78_4245-76del	ENSP00000376443.2:n.4245-78_4245-76del
ENST00000586811.1:c.1143-78_1143-76del	ENSP00000465351.1:n.1143-78_1143-76del
ENST00000586995.5:c.3307-78_3307-76del	ENSP00000467251.1:n.3307-78_3307-76del
ENST00000588877.5:c.4245-78_4245-76del	ENSP00000467882.1:n.4245-78_4245-76del
ENST00000591234.5:c.2187-78_2187-76del	ENSP00000465766.1:n.2187-78_2187-76del
NM_018672.4:c.4245-78_4245-76del	NP_061142.2:n.4245-78_4245-76del
NM_172232.3:c.4245-78_4245-76del	NP_758424.1:n.4245-78_4245-76del
NM_172232.4:c.4245-78_4245-76del MANE Select	NP_758424.1:n.4245-78_4245-76del
NM_018672.5:c.4245-78_4245-76del	NP_061142.2:n.4245-78_4245-76del