Canonical Allele Identifier: CA2662978474

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980518-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980521del , CM000664.2:g.214980521del	GRCh38
NC_000002.11:g.215845245del , CM000664.1:g.215845245del	GRCh37
NC_000002.10:g.215553490del	NCBI36
NG_007074.1:g.162909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4704del MANE Select	ENSP00000272895.7:p.Phe1568LeufsTer17
ENST00000272895.11:c.4704del	ENSP00000272895.7:p.Phe1568LeufsTer17
ENST00000389661.4:c.3750del	ENSP00000374312.4:p.Phe1250LeufsTer17
NM_015657.3:c.3750del	NP_056472.2:p.Phe1250LeufsTer17
NM_173076.2:c.4704del	NP_775099.2:p.Phe1568LeufsTer17
NR_103740.1:n.5004del
XM_011510951.1:c.4713del	XP_011509253.1:p.Phe1571LeufsTer17
XM_011510952.1:c.4713del	XP_011509254.1:p.Phe1571LeufsTer17
XM_011510951.2:c.4713del	XP_011509253.1:p.Phe1571LeufsTer17
NM_173076.3:c.4704del MANE Select	NP_775099.2:p.Phe1568LeufsTer17
NR_103740.2:n.5202del
NM_015657.4:c.3750del	NP_056472.2:p.Phe1250LeufsTer17