Canonical Allele Identifier: CA1327163590

Gene: ABCA12

Linked Data

• dbSNP Id: rs1699787519

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214986413_214986422del , CM000664.2:g.214986413_214986422del	GRCh38
NC_000002.11:g.215851137_215851146del , CM000664.1:g.215851137_215851146del	GRCh37
NC_000002.10:g.215559382_215559391del	NCBI36
NG_007074.1:g.157008_157017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4163+122_4163+131del MANE Select	ENSP00000272895.7:n.4163+122_4163+131del
ENST00000272895.11:c.4163+122_4163+131del	ENSP00000272895.7:n.4163+122_4163+131del
ENST00000389661.4:c.3209+122_3209+131del	ENSP00000374312.4:n.3209+122_3209+131del
NM_015657.3:c.3209+122_3209+131del	NP_056472.2:n.3209+122_3209+131del
NM_173076.2:c.4163+122_4163+131del	NP_775099.2:n.4163+122_4163+131del
NR_103740.1:n.4463+122_4463+131del
XM_011510951.1:c.4172+122_4172+131del	XP_011509253.1:n.4172+122_4172+131del
XM_011510952.1:c.4172+122_4172+131del	XP_011509254.1:n.4172+122_4172+131del
XM_011510951.2:c.4172+122_4172+131del	XP_011509253.1:n.4172+122_4172+131del
NM_173076.3:c.4163+122_4163+131del MANE Select	NP_775099.2:n.4163+122_4163+131del
NR_103740.2:n.4661+122_4661+131del
NM_015657.4:c.3209+122_3209+131del	NP_056472.2:n.3209+122_3209+131del