Canonical Allele Identifier: CA539837491

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2991800
• ClinVar RCV Id: RCV003852863
• dbSNP Id: rs1202982020
• gnomAD v2: 2-215884186-GA-G
• gnomAD v3: 2-215019462-GA-G
• gnomAD v4: 2-215019462-GA-G
• MyVariant Identifiers: chr2:g.215884187del (hg19) ; chr2:g.215019463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019466del , CM000664.2:g.215019466del	GRCh38
NC_000002.11:g.215884190del , CM000664.1:g.215884190del	GRCh37
NC_000002.10:g.215592435del	NCBI36
NG_007074.1:g.123965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1545-15del MANE Select	ENSP00000272895.7:n.1545-15del
ENST00000272895.11:c.1545-15del	ENSP00000272895.7:n.1545-15del
ENST00000389661.4:c.591-15del	ENSP00000374312.4:n.591-15del
NM_015657.3:c.591-15del	NP_056472.2:n.591-15del
NM_173076.2:c.1545-15del	NP_775099.2:n.1545-15del
NR_103740.1:n.1789-15del
XM_011510951.1:c.1545-15del	XP_011509253.1:n.1545-15del
XM_011510952.1:c.1545-15del	XP_011509254.1:n.1545-15del
XM_011510951.2:c.1545-15del	XP_011509253.1:n.1545-15del
NM_173076.3:c.1545-15del MANE Select	NP_775099.2:n.1545-15del
NR_103740.2:n.1987-15del
NM_015657.4:c.591-15del	NP_056472.2:n.591-15del