Canonical Allele Identifier: CA2091745

Gene: ABCA12

Linked Data

• dbSNP Id: rs775858075
• ExAC: 2:215855729 G / GGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGT
• gnomAD v2: 2-215855729-G-GGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGT
• gnomAD v3: 2-214991005-G-GGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGT
• gnomAD v4: 2-214991005-G-GGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGT
• MyVariant Identifiers: chr2:g.215855729_215855730insGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGT (hg19) ; chr2:g.214991005_214991006insGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214991009_214991053dup , CM000664.2:g.214991009_214991053dup	GRCh38
NC_000002.11:g.215855733_215855777dup , CM000664.1:g.215855733_215855777dup	GRCh37
NC_000002.10:g.215563978_215564022dup	NCBI36
NG_007074.1:g.152378_152422dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3295-19_3320dup
ENST00000272895.11:c.3295-19_3320dup
ENST00000389661.4:c.2341-19_2366dup
NM_015657.3:c.2341-19_2366dup
NM_173076.2:c.3295-19_3320dup
NR_103740.1:n.3595-19_3620dup
XM_011510951.1:c.3295-19_3320dup
XM_011510952.1:c.3295-19_3320dup
XM_011510951.2:c.3295-19_3320dup
NM_173076.3:c.3295-19_3320dup
NR_103740.2:n.3793-19_3818dup
NM_015657.4:c.2341-19_2366dup