Canonical Allele Identifier: CA1042213908

Gene: ABCA12

Linked Data

• dbSNP Id: rs539808382
• gnomAD v3: 2-215011865-GTTT-G
• gnomAD v4: 2-215011865-GTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011876_215011878del , CM000664.2:g.215011876_215011878del	GRCh38
NC_000002.11:g.215876600_215876602del , CM000664.1:g.215876600_215876602del	GRCh37
NC_000002.10:g.215584845_215584847del	NCBI36
NG_007074.1:g.131560_131562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+103_2121+105del MANE Select	ENSP00000272895.7:n.2121+103_2121+105del
ENST00000272895.11:c.2121+103_2121+105del	ENSP00000272895.7:n.2121+103_2121+105del
ENST00000389661.4:c.1167+103_1167+105del	ENSP00000374312.4:n.1167+103_1167+105del
NM_015657.3:c.1167+103_1167+105del	NP_056472.2:n.1167+103_1167+105del
NM_173076.2:c.2121+103_2121+105del	NP_775099.2:n.2121+103_2121+105del
NR_103740.1:n.2365+103_2365+105del
XM_011510951.1:c.2121+103_2121+105del	XP_011509253.1:n.2121+103_2121+105del
XM_011510952.1:c.2121+103_2121+105del	XP_011509254.1:n.2121+103_2121+105del
XM_011510951.2:c.2121+103_2121+105del	XP_011509253.1:n.2121+103_2121+105del
NM_173076.3:c.2121+103_2121+105del MANE Select	NP_775099.2:n.2121+103_2121+105del
NR_103740.2:n.2563+103_2563+105del
NM_015657.4:c.1167+103_1167+105del	NP_056472.2:n.1167+103_1167+105del