Canonical Allele Identifier: CA2754210400

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011882_215011883insTTTTTTTTTTTTT , CM000664.2:g.215011882_215011883insTTTTTTTTTTTTT	GRCh38
NC_000002.11:g.215876606_215876607insTTTTTTTTTTTTT , CM000664.1:g.215876606_215876607insTTTTTTTTTTTTT	GRCh37
NC_000002.10:g.215584851_215584852insTTTTTTTTTTTTT	NCBI36
NG_007074.1:g.131546_131547insAAAAAAAAAAAAA

Transcript Alleles

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