Canonical Allele Identifier: CA2754210397

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011876_215011877insAT , CM000664.2:g.215011876_215011877insAT	GRCh38
NC_000002.11:g.215876600_215876601insAT , CM000664.1:g.215876600_215876601insAT	GRCh37
NC_000002.10:g.215584845_215584846insAT	NCBI36
NG_007074.1:g.131552_131553insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+95_2121+96insTA MANE Select	ENSP00000272895.7:n.2121+95_2121+96insTA
ENST00000272895.11:c.2121+95_2121+96insTA	ENSP00000272895.7:n.2121+95_2121+96insTA
ENST00000389661.4:c.1167+95_1167+96insTA	ENSP00000374312.4:n.1167+95_1167+96insTA
NM_015657.3:c.1167+95_1167+96insTA	NP_056472.2:n.1167+95_1167+96insTA
NM_173076.2:c.2121+95_2121+96insTA	NP_775099.2:n.2121+95_2121+96insTA
NR_103740.1:n.2365+95_2365+96insTA
XM_011510951.1:c.2121+95_2121+96insTA	XP_011509253.1:n.2121+95_2121+96insTA
XM_011510952.1:c.2121+95_2121+96insTA	XP_011509254.1:n.2121+95_2121+96insTA
XM_011510951.2:c.2121+95_2121+96insTA	XP_011509253.1:n.2121+95_2121+96insTA
NM_173076.3:c.2121+95_2121+96insTA MANE Select	NP_775099.2:n.2121+95_2121+96insTA
NR_103740.2:n.2563+95_2563+96insTA
NM_015657.4:c.1167+95_1167+96insTA	NP_056472.2:n.1167+95_1167+96insTA