Canonical Allele Identifier: CA916772351

Gene: ABCA12

Linked Data

• dbSNP Id: rs539808382

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011878_215011879insTTTTTTTTTTTTTT , CM000664.2:g.215011878_215011879insTTTTTTTTTTTTTT	GRCh38
NC_000002.11:g.215876602_215876603insTTTTTTTTTTTTTT , CM000664.1:g.215876602_215876603insTTTTTTTTTTTTTT	GRCh37
NC_000002.10:g.215584847_215584848insTTTTTTTTTTTTTT	NCBI36
NG_007074.1:g.131562_131563insAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+105_2121+106insAAAAAAAAAAAAAA MANE Select	ENSP00000272895.7:n.2121+105_2121+106insAAAAAAAAAAAAAA
ENST00000272895.11:c.2121+105_2121+106insAAAAAAAAAAAAAA	ENSP00000272895.7:n.2121+105_2121+106insAAAAAAAAAAAAAA
ENST00000389661.4:c.1167+105_1167+106insAAAAAAAAAAAAAA	ENSP00000374312.4:n.1167+105_1167+106insAAAAAAAAAAAAAA
NM_015657.3:c.1167+105_1167+106insAAAAAAAAAAAAAA	NP_056472.2:n.1167+105_1167+106insAAAAAAAAAAAAAA
NM_173076.2:c.2121+105_2121+106insAAAAAAAAAAAAAA	NP_775099.2:n.2121+105_2121+106insAAAAAAAAAAAAAA
NR_103740.1:n.2365+105_2365+106insAAAAAAAAAAAAAA
XM_011510951.1:c.2121+105_2121+106insAAAAAAAAAAAAAA	XP_011509253.1:n.2121+105_2121+106insAAAAAAAAAAAAAA
XM_011510952.1:c.2121+105_2121+106insAAAAAAAAAAAAAA	XP_011509254.1:n.2121+105_2121+106insAAAAAAAAAAAAAA
XM_011510951.2:c.2121+105_2121+106insAAAAAAAAAAAAAA	XP_011509253.1:n.2121+105_2121+106insAAAAAAAAAAAAAA
NM_173076.3:c.2121+105_2121+106insAAAAAAAAAAAAAA MANE Select	NP_775099.2:n.2121+105_2121+106insAAAAAAAAAAAAAA
NR_103740.2:n.2563+105_2563+106insAAAAAAAAAAAAAA
NM_015657.4:c.1167+105_1167+106insAAAAAAAAAAAAAA	NP_056472.2:n.1167+105_1167+106insAAAAAAAAAAAAAA