Canonical Allele Identifier: CA764597503
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1321610076
gnomAD v4: 2-214980413-ACT-A
MyVariant Identifiers: chr2:g.215845138_215845139del (hg19) chr2:g.214980414_214980415del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980416_214980417del , CM000664.2:g.214980416_214980417del GRCh38
NC_000002.11:g.215845140_215845141del , CM000664.1:g.215845140_215845141del GRCh37
NC_000002.10:g.215553385_215553386del NCBI36
NG_007074.1:g.163013_163014del

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4740+68_4740+69del MANE Select ENSP00000272895.7:n.4740+68_4740+69del
ENST00000272895.11:c.4740+68_4740+69del ENSP00000272895.7:n.4740+68_4740+69del
ENST00000389661.4:c.3786+68_3786+69del ENSP00000374312.4:n.3786+68_3786+69del
NM_015657.3:c.3786+68_3786+69del NP_056472.2:n.3786+68_3786+69del
NM_173076.2:c.4740+68_4740+69del NP_775099.2:n.4740+68_4740+69del
NR_103740.1:n.5040+68_5040+69del
XM_011510951.1:c.4749+68_4749+69del XP_011509253.1:n.4749+68_4749+69del
XM_011510952.1:c.4749+68_4749+69del XP_011509254.1:n.4749+68_4749+69del
XM_011510951.2:c.4749+68_4749+69del XP_011509253.1:n.4749+68_4749+69del
NM_173076.3:c.4740+68_4740+69del MANE Select NP_775099.2:n.4740+68_4740+69del
NR_103740.2:n.5238+68_5238+69del
NM_015657.4:c.3786+68_3786+69del NP_056472.2:n.3786+68_3786+69del
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