Canonical Allele Identifier: CA2662978475

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980560-GCCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980564_214980567del , CM000664.2:g.214980564_214980567del	GRCh38
NC_000002.11:g.215845288_215845291del , CM000664.1:g.215845288_215845291del	GRCh37
NC_000002.10:g.215553533_215553536del	NCBI36
NG_007074.1:g.162864_162867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4659_4662del MANE Select	ENSP00000272895.7:p.Gly1554LeufsTer?
ENST00000272895.11:c.4659_4662del	ENSP00000272895.7:p.Gly1554LeufsTer?
ENST00000389661.4:c.3705_3708del	ENSP00000374312.4:p.Gly1236LeufsTer?
NM_015657.3:c.3705_3708del	NP_056472.2:p.Gly1236LeufsTer?
NM_173076.2:c.4659_4662del	NP_775099.2:p.Gly1554LeufsTer?
NR_103740.1:n.4959_4962del
XM_011510951.1:c.4668_4671del	XP_011509253.1:p.Gly1557LeufsTer?
XM_011510952.1:c.4668_4671del	XP_011509254.1:p.Gly1557LeufsTer?
XM_011510951.2:c.4668_4671del	XP_011509253.1:p.Gly1557LeufsTer?
NM_173076.3:c.4659_4662del MANE Select	NP_775099.2:p.Gly1554LeufsTer?
NR_103740.2:n.5157_5160del
NM_015657.4:c.3705_3708del	NP_056472.2:p.Gly1236LeufsTer?