Canonical Allele Identifier: CA539837726

Gene: ABCA12

Linked Data

• dbSNP Id: rs11388414
• gnomAD v2: 2-215876590-T-TA
• gnomAD v3: 2-215011866-T-TA
• gnomAD v4: 2-215011866-T-TA
• MyVariant Identifiers: chr2:g.215876590_215876591insA (hg19) ; chr2:g.215011866_215011867insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011866_215011867insA , CM000664.2:g.215011866_215011867insA	GRCh38
NC_000002.11:g.215876590_215876591insA , CM000664.1:g.215876590_215876591insA	GRCh37
NC_000002.10:g.215584835_215584836insA	NCBI36
NG_007074.1:g.131561_131562insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+104_2121+105insT MANE Select	ENSP00000272895.7:n.2121+104_2121+105insT
ENST00000272895.11:c.2121+104_2121+105insT	ENSP00000272895.7:n.2121+104_2121+105insT
ENST00000389661.4:c.1167+104_1167+105insT	ENSP00000374312.4:n.1167+104_1167+105insT
NM_015657.3:c.1167+104_1167+105insT	NP_056472.2:n.1167+104_1167+105insT
NM_173076.2:c.2121+104_2121+105insT	NP_775099.2:n.2121+104_2121+105insT
NR_103740.1:n.2365+104_2365+105insT
XM_011510951.1:c.2121+104_2121+105insT	XP_011509253.1:n.2121+104_2121+105insT
XM_011510952.1:c.2121+104_2121+105insT	XP_011509254.1:n.2121+104_2121+105insT
XM_011510951.2:c.2121+104_2121+105insT	XP_011509253.1:n.2121+104_2121+105insT
NM_173076.3:c.2121+104_2121+105insT MANE Select	NP_775099.2:n.2121+104_2121+105insT
NR_103740.2:n.2563+104_2563+105insT
NM_015657.4:c.1167+104_1167+105insT	NP_056472.2:n.1167+104_1167+105insT