Canonical Allele Identifier: CA1327165482
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214991120_214991122delinsAGT , CM000664.2:g.214991120_214991122delinsAGT GRCh38
NC_000002.11:g.215855844_215855846delinsAGT , CM000664.1:g.215855844_215855846delinsAGT GRCh37
NC_000002.10:g.215564089_215564091delinsAGT NCBI36
NG_007074.1:g.152306_152308delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.3295-91_3295-89delinsACT MANE Select ENSP00000272895.7:n.3295-91_3295-89delinsACT
ENST00000272895.11:c.3295-91_3295-89delinsACT ENSP00000272895.7:n.3295-91_3295-89delinsACT
ENST00000389661.4:c.2341-91_2341-89delinsACT ENSP00000374312.4:n.2341-91_2341-89delinsACT
NM_015657.3:c.2341-91_2341-89delinsACT NP_056472.2:n.2341-91_2341-89delinsACT
NM_173076.2:c.3295-91_3295-89delinsACT NP_775099.2:n.3295-91_3295-89delinsACT
NR_103740.1:n.3595-91_3595-89delinsACT
XM_011510951.1:c.3295-91_3295-89delinsACT XP_011509253.1:n.3295-91_3295-89delinsACT
XM_011510952.1:c.3295-91_3295-89delinsACT XP_011509254.1:n.3295-91_3295-89delinsACT
XM_011510951.2:c.3295-91_3295-89delinsACT XP_011509253.1:n.3295-91_3295-89delinsACT
NM_173076.3:c.3295-91_3295-89delinsACT MANE Select NP_775099.2:n.3295-91_3295-89delinsACT
NR_103740.2:n.3793-91_3793-89delinsACT
NM_015657.4:c.2341-91_2341-89delinsACT NP_056472.2:n.2341-91_2341-89delinsACT