Canonical Allele Identifier: CA1327165483
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1699903782

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214991121_214991122del , CM000664.2:g.214991121_214991122del GRCh38
NC_000002.11:g.215855845_215855846del , CM000664.1:g.215855845_215855846del GRCh37
NC_000002.10:g.215564090_215564091del NCBI36
NG_007074.1:g.152306_152307del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.3295-91_3295-90del MANE Select ENSP00000272895.7:n.3295-91_3295-90del
ENST00000272895.11:c.3295-91_3295-90del ENSP00000272895.7:n.3295-91_3295-90del
ENST00000389661.4:c.2341-91_2341-90del ENSP00000374312.4:n.2341-91_2341-90del
NM_015657.3:c.2341-91_2341-90del NP_056472.2:n.2341-91_2341-90del
NM_173076.2:c.3295-91_3295-90del NP_775099.2:n.3295-91_3295-90del
NR_103740.1:n.3595-91_3595-90del
XM_011510951.1:c.3295-91_3295-90del XP_011509253.1:n.3295-91_3295-90del
XM_011510952.1:c.3295-91_3295-90del XP_011509254.1:n.3295-91_3295-90del
XM_011510951.2:c.3295-91_3295-90del XP_011509253.1:n.3295-91_3295-90del
NM_173076.3:c.3295-91_3295-90del MANE Select NP_775099.2:n.3295-91_3295-90del
NR_103740.2:n.3793-91_3793-90del
NM_015657.4:c.2341-91_2341-90del NP_056472.2:n.2341-91_2341-90del