Canonical Allele Identifier: CA539837729

Gene: ABCA12

Linked Data

• dbSNP Id: rs1700383587
• gnomAD v2: 2-215876602-TCAA-T
• gnomAD v3: 2-215011878-TCAA-T
• gnomAD v4: 2-215011878-TCAA-T
• MyVariant Identifiers: chr2:g.215876603_215876605del (hg19) ; chr2:g.215011879_215011881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011879_215011881del , CM000664.2:g.215011879_215011881del	GRCh38
NC_000002.11:g.215876603_215876605del , CM000664.1:g.215876603_215876605del	GRCh37
NC_000002.10:g.215584848_215584850del	NCBI36
NG_007074.1:g.131547_131549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+90_2121+92del MANE Select	ENSP00000272895.7:n.2121+90_2121+92del
ENST00000272895.11:c.2121+90_2121+92del	ENSP00000272895.7:n.2121+90_2121+92del
ENST00000389661.4:c.1167+90_1167+92del	ENSP00000374312.4:n.1167+90_1167+92del
NM_015657.3:c.1167+90_1167+92del	NP_056472.2:n.1167+90_1167+92del
NM_173076.2:c.2121+90_2121+92del	NP_775099.2:n.2121+90_2121+92del
NR_103740.1:n.2365+90_2365+92del
XM_011510951.1:c.2121+90_2121+92del	XP_011509253.1:n.2121+90_2121+92del
XM_011510952.1:c.2121+90_2121+92del	XP_011509254.1:n.2121+90_2121+92del
XM_011510951.2:c.2121+90_2121+92del	XP_011509253.1:n.2121+90_2121+92del
NM_173076.3:c.2121+90_2121+92del MANE Select	NP_775099.2:n.2121+90_2121+92del
NR_103740.2:n.2563+90_2563+92del
NM_015657.4:c.1167+90_1167+92del	NP_056472.2:n.1167+90_1167+92del