Canonical Allele Identifier: CA1327160253

Gene: ABCA12

Linked Data

• dbSNP Id: rs1699577149

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978651_214978652del , CM000664.2:g.214978651_214978652del	GRCh38
NC_000002.11:g.215843375_215843376del , CM000664.1:g.215843375_215843376del	GRCh37
NC_000002.10:g.215551620_215551621del	NCBI36
NG_007074.1:g.164776_164777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4977+152_4977+153del MANE Select	ENSP00000272895.7:n.4977+152_4977+153del
ENST00000272895.11:c.4977+152_4977+153del	ENSP00000272895.7:n.4977+152_4977+153del
ENST00000389661.4:c.4023+152_4023+153del	ENSP00000374312.4:n.4023+152_4023+153del
NM_015657.3:c.4023+152_4023+153del	NP_056472.2:n.4023+152_4023+153del
NM_173076.2:c.4977+152_4977+153del	NP_775099.2:n.4977+152_4977+153del
NR_103740.1:n.5277+152_5277+153del
XM_011510951.1:c.4986+152_4986+153del	XP_011509253.1:n.4986+152_4986+153del
XM_011510952.1:c.4986+152_4986+153del	XP_011509254.1:n.4986+152_4986+153del
XM_011510951.2:c.4986+152_4986+153del	XP_011509253.1:n.4986+152_4986+153del
NM_173076.3:c.4977+152_4977+153del MANE Select	NP_775099.2:n.4977+152_4977+153del
NR_103740.2:n.5475+152_5475+153del
NM_015657.4:c.4023+152_4023+153del	NP_056472.2:n.4023+152_4023+153del