Canonical Allele Identifier: CA64827418

Gene: ABCA12

Linked Data

• dbSNP Id: rs757283402
• gnomAD v2: 2-215855360-A-AAAAC
• gnomAD v3: 2-214990636-A-AAAAC
• gnomAD v4: 2-214990636-A-AAAAC
• MyVariant Identifiers: chr2:g.215855364_215855365insAAAC (hg19) ; chr2:g.215855360_215855361insAAAC (hg19) ; chr2:g.214990640_214990641insAAAC (hg38) ; chr2:g.214990636_214990637insAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990656_214990659dup , CM000664.2:g.214990656_214990659dup	GRCh38
NC_000002.11:g.215855380_215855383dup , CM000664.1:g.215855380_215855383dup	GRCh37
NC_000002.10:g.215563625_215563628dup	NCBI36
NG_007074.1:g.152788_152791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3624+62_3624+65dup MANE Select	ENSP00000272895.7:n.3624+62_3624+65dup
ENST00000272895.11:c.3624+62_3624+65dup	ENSP00000272895.7:n.3624+62_3624+65dup
ENST00000389661.4:c.2670+62_2670+65dup	ENSP00000374312.4:n.2670+62_2670+65dup
NM_015657.3:c.2670+62_2670+65dup	NP_056472.2:n.2670+62_2670+65dup
NM_173076.2:c.3624+62_3624+65dup	NP_775099.2:n.3624+62_3624+65dup
NR_103740.1:n.3924+62_3924+65dup
XM_011510951.1:c.3624+62_3624+65dup	XP_011509253.1:n.3624+62_3624+65dup
XM_011510952.1:c.3624+62_3624+65dup	XP_011509254.1:n.3624+62_3624+65dup
XM_011510951.2:c.3624+62_3624+65dup	XP_011509253.1:n.3624+62_3624+65dup
NM_173076.3:c.3624+62_3624+65dup MANE Select	NP_775099.2:n.3624+62_3624+65dup
NR_103740.2:n.4122+62_4122+65dup
NM_015657.4:c.2670+62_2670+65dup	NP_056472.2:n.2670+62_2670+65dup