Canonical Allele Identifier: CA2662982051

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215019562-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019563_215019564del , CM000664.2:g.215019563_215019564del	GRCh38
NC_000002.11:g.215884287_215884288del , CM000664.1:g.215884287_215884288del	GRCh37
NC_000002.10:g.215592532_215592533del	NCBI36
NG_007074.1:g.123864_123865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1520_1521del MANE Select	ENSP00000272895.7:p.Ser507LysfsTer3
ENST00000272895.11:c.1520_1521del	ENSP00000272895.7:p.Ser507LysfsTer3
ENST00000389661.4:c.566_567del	ENSP00000374312.4:p.Ser189LysfsTer3
NM_015657.3:c.566_567del	NP_056472.2:p.Ser189LysfsTer3
NM_173076.2:c.1520_1521del	NP_775099.2:p.Ser507LysfsTer3
NR_103740.1:n.1764_1765del
XM_011510951.1:c.1520_1521del	XP_011509253.1:p.Ser507LysfsTer3
XM_011510952.1:c.1520_1521del	XP_011509254.1:p.Ser507LysfsTer3
XM_011510951.2:c.1520_1521del	XP_011509253.1:p.Ser507LysfsTer3
NM_173076.3:c.1520_1521del MANE Select	NP_775099.2:p.Ser507LysfsTer3
NR_103740.2:n.1962_1963del
NM_015657.4:c.566_567del	NP_056472.2:p.Ser189LysfsTer3