Canonical Allele Identifier: CA1327160970
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980482_214980485delinsCCTT , CM000664.2:g.214980482_214980485delinsCCTT GRCh38
NC_000002.11:g.215845206_215845209delinsCCTT , CM000664.1:g.215845206_215845209delinsCCTT GRCh37
NC_000002.10:g.215553451_215553454delinsCCTT NCBI36
NG_007074.1:g.162943_162946delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4738_4740+1delinsAAGG
ENST00000272895.11:c.4738_4740+1delinsAAGG
ENST00000389661.4:c.3784_3786+1delinsAAGG
NM_015657.3:c.3784_3786+1delinsAAGG
NM_173076.2:c.4738_4740+1delinsAAGG
NR_103740.1:n.5038_5040+1delinsAAGG
XM_011510951.1:c.4747_4749+1delinsAAGG
XM_011510952.1:c.4747_4749+1delinsAAGG
XM_011510951.2:c.4747_4749+1delinsAAGG
NM_173076.3:c.4738_4740+1delinsAAGG
NR_103740.2:n.5236_5238+1delinsAAGG
NM_015657.4:c.3784_3786+1delinsAAGG