Canonical Allele Identifier: CA539536597

Gene: ABCA12

Linked Data

• dbSNP Id: rs1387315595
• gnomAD v2: 2-215844995-GACCTAC-G
• gnomAD v3: 2-214980271-GACCTAC-G
• gnomAD v4: 2-214980271-GACCTAC-G
• MyVariant Identifiers: chr2:g.215844996_215845001del (hg19) ; chr2:g.214980272_214980277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980273_214980278del , CM000664.2:g.214980273_214980278del	GRCh38
NC_000002.11:g.215844997_215845002del , CM000664.1:g.215844997_215845002del	GRCh37
NC_000002.10:g.215553242_215553247del	NCBI36
NG_007074.1:g.163151_163156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4740+206_4740+211del MANE Select	ENSP00000272895.7:n.4740+206_4740+211del
ENST00000272895.11:c.4740+206_4740+211del	ENSP00000272895.7:n.4740+206_4740+211del
ENST00000389661.4:c.3786+206_3786+211del	ENSP00000374312.4:n.3786+206_3786+211del
NM_015657.3:c.3786+206_3786+211del	NP_056472.2:n.3786+206_3786+211del
NM_173076.2:c.4740+206_4740+211del	NP_775099.2:n.4740+206_4740+211del
NR_103740.1:n.5040+206_5040+211del
XM_011510951.1:c.4749+206_4749+211del	XP_011509253.1:n.4749+206_4749+211del
XM_011510952.1:c.4749+206_4749+211del	XP_011509254.1:n.4749+206_4749+211del
XM_011510951.2:c.4749+206_4749+211del	XP_011509253.1:n.4749+206_4749+211del
NM_173076.3:c.4740+206_4740+211del MANE Select	NP_775099.2:n.4740+206_4740+211del
NR_103740.2:n.5238+206_5238+211del
NM_015657.4:c.3786+206_3786+211del	NP_056472.2:n.3786+206_3786+211del