Canonical Allele Identifier: CA1042213958

Gene: ABCA12

Linked Data

• gnomAD v3: 2-215011885-A-ATTTT
• gnomAD v4: 2-215011885-A-ATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011885_215011886insTTTT , CM000664.2:g.215011885_215011886insTTTT	GRCh38
NC_000002.11:g.215876609_215876610insTTTT , CM000664.1:g.215876609_215876610insTTTT	GRCh37
NC_000002.10:g.215584854_215584855insTTTT	NCBI36
NG_007074.1:g.131542_131543insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+85_2121+86insAAAA MANE Select	ENSP00000272895.7:n.2121+85_2121+86insAAAA
ENST00000272895.11:c.2121+85_2121+86insAAAA	ENSP00000272895.7:n.2121+85_2121+86insAAAA
ENST00000389661.4:c.1167+85_1167+86insAAAA	ENSP00000374312.4:n.1167+85_1167+86insAAAA
NM_015657.3:c.1167+85_1167+86insAAAA	NP_056472.2:n.1167+85_1167+86insAAAA
NM_173076.2:c.2121+85_2121+86insAAAA	NP_775099.2:n.2121+85_2121+86insAAAA
NR_103740.1:n.2365+85_2365+86insAAAA
XM_011510951.1:c.2121+85_2121+86insAAAA	XP_011509253.1:n.2121+85_2121+86insAAAA
XM_011510952.1:c.2121+85_2121+86insAAAA	XP_011509254.1:n.2121+85_2121+86insAAAA
XM_011510951.2:c.2121+85_2121+86insAAAA	XP_011509253.1:n.2121+85_2121+86insAAAA
NM_173076.3:c.2121+85_2121+86insAAAA MANE Select	NP_775099.2:n.2121+85_2121+86insAAAA
NR_103740.2:n.2563+85_2563+86insAAAA
NM_015657.4:c.1167+85_1167+86insAAAA	NP_056472.2:n.1167+85_1167+86insAAAA