Canonical Allele Identifier: CA2754209615
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978567_214978568insGGCTC , CM000664.2:g.214978567_214978568insGGCTC GRCh38
NC_000002.11:g.215843291_215843292insGGCTC , CM000664.1:g.215843291_215843292insGGCTC GRCh37
NC_000002.10:g.215551536_215551537insGGCTC NCBI36
NG_007074.1:g.164860_164861insGAGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4978-102_4978-101insGAGCC MANE Select ENSP00000272895.7:n.4978-102_4978-101insGAGCC
ENST00000272895.11:c.4978-102_4978-101insGAGCC ENSP00000272895.7:n.4978-102_4978-101insGAGCC
ENST00000389661.4:c.4024-102_4024-101insGAGCC ENSP00000374312.4:n.4024-102_4024-101insGAGCC
NM_015657.3:c.4024-102_4024-101insGAGCC NP_056472.2:n.4024-102_4024-101insGAGCC
NM_173076.2:c.4978-102_4978-101insGAGCC NP_775099.2:n.4978-102_4978-101insGAGCC
NR_103740.1:n.5278-102_5278-101insGAGCC
XM_011510951.1:c.4987-102_4987-101insGAGCC XP_011509253.1:n.4987-102_4987-101insGAGCC
XM_011510952.1:c.4987-102_4987-101insGAGCC XP_011509254.1:n.4987-102_4987-101insGAGCC
XM_011510951.2:c.4987-102_4987-101insGAGCC XP_011509253.1:n.4987-102_4987-101insGAGCC
NM_173076.3:c.4978-102_4978-101insGAGCC MANE Select NP_775099.2:n.4978-102_4978-101insGAGCC
NR_103740.2:n.5476-102_5476-101insGAGCC
NM_015657.4:c.4024-102_4024-101insGAGCC NP_056472.2:n.4024-102_4024-101insGAGCC