Canonical Allele Identifier: CA539837733

Gene: ABCA12

Linked Data

• dbSNP Id: rs1700383803
• gnomAD v2: 2-215876605-A-ATTTT
• gnomAD v3: 2-215011881-A-ATTTT
• gnomAD v4: 2-215011881-A-ATTTT
• MyVariant Identifiers: chr2:g.215876605_215876606insTTTT (hg19) ; chr2:g.215011881_215011882insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011882_215011883insTTTT , CM000664.2:g.215011882_215011883insTTTT	GRCh38
NC_000002.11:g.215876606_215876607insTTTT , CM000664.1:g.215876606_215876607insTTTT	GRCh37
NC_000002.10:g.215584851_215584852insTTTT	NCBI36
NG_007074.1:g.131546_131547insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+89_2121+90insAAAA MANE Select	ENSP00000272895.7:n.2121+89_2121+90insAAAA
ENST00000272895.11:c.2121+89_2121+90insAAAA	ENSP00000272895.7:n.2121+89_2121+90insAAAA
ENST00000389661.4:c.1167+89_1167+90insAAAA	ENSP00000374312.4:n.1167+89_1167+90insAAAA
NM_015657.3:c.1167+89_1167+90insAAAA	NP_056472.2:n.1167+89_1167+90insAAAA
NM_173076.2:c.2121+89_2121+90insAAAA	NP_775099.2:n.2121+89_2121+90insAAAA
NR_103740.1:n.2365+89_2365+90insAAAA
XM_011510951.1:c.2121+89_2121+90insAAAA	XP_011509253.1:n.2121+89_2121+90insAAAA
XM_011510952.1:c.2121+89_2121+90insAAAA	XP_011509254.1:n.2121+89_2121+90insAAAA
XM_011510951.2:c.2121+89_2121+90insAAAA	XP_011509253.1:n.2121+89_2121+90insAAAA
NM_173076.3:c.2121+89_2121+90insAAAA MANE Select	NP_775099.2:n.2121+89_2121+90insAAAA
NR_103740.2:n.2563+89_2563+90insAAAA
NM_015657.4:c.1167+89_1167+90insAAAA	NP_056472.2:n.1167+89_1167+90insAAAA