Canonical Allele Identifier: CA2092203

Gene: ABCA12

Linked Data

• dbSNP Id: rs762590456
• ExAC: 2:215884188 AAAG / A
• gnomAD v2: 2-215884188-AAAG-A
• gnomAD v4: 2-215019464-AAAG-A
• MyVariant Identifiers: chr2:g.215884189_215884191del (hg19) ; chr2:g.215019465_215019467del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019470_215019472del , CM000664.2:g.215019470_215019472del	GRCh38
NC_000002.11:g.215884194_215884196del , CM000664.1:g.215884194_215884196del	GRCh37
NC_000002.10:g.215592439_215592441del	NCBI36
NG_007074.1:g.123961_123963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1545-19_1545-17del MANE Select	ENSP00000272895.7:n.1545-19_1545-17del
ENST00000272895.11:c.1545-19_1545-17del	ENSP00000272895.7:n.1545-19_1545-17del
ENST00000389661.4:c.591-19_591-17del	ENSP00000374312.4:n.591-19_591-17del
NM_015657.3:c.591-19_591-17del	NP_056472.2:n.591-19_591-17del
NM_173076.2:c.1545-19_1545-17del	NP_775099.2:n.1545-19_1545-17del
NR_103740.1:n.1789-19_1789-17del
XM_011510951.1:c.1545-19_1545-17del	XP_011509253.1:n.1545-19_1545-17del
XM_011510952.1:c.1545-19_1545-17del	XP_011509254.1:n.1545-19_1545-17del
XM_011510951.2:c.1545-19_1545-17del	XP_011509253.1:n.1545-19_1545-17del
NM_173076.3:c.1545-19_1545-17del MANE Select	NP_775099.2:n.1545-19_1545-17del
NR_103740.2:n.1987-19_1987-17del
NM_015657.4:c.591-19_591-17del	NP_056472.2:n.591-19_591-17del