Canonical Allele Identifier: CA2662973936

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214932315-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932317_214932318del , CM000664.2:g.214932317_214932318del	GRCh38
NC_000002.11:g.215797041_215797042del , CM000664.1:g.215797041_215797042del	GRCh37
NC_000002.10:g.215505286_215505287del	NCBI36
NG_007074.1:g.211111_211112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*317_*318del (ABCA12) MANE Select	ENSP00000272895.7:n.*317_*318del
ENST00000272895.11:c.*317_*318del (ABCA12)	ENSP00000272895.7:n.*317_*318del
NM_015657.3:c.*317_*318del (ABCA12)	NP_056472.2:n.*317_*318del
NM_173076.2:c.*317_*318del (ABCA12)	NP_775099.2:n.*317_*318del
NR_103740.1:n.8405_8406del (ABCA12)
NR_110292.1:n.322-15508_322-15507del (SNHG31)
XM_011510951.1:c.*317_*318del (ABCA12)	XP_011509253.1:n.*317_*318del
XM_011510951.2:c.*317_*318del (ABCA12)	XP_011509253.1:n.*317_*318del
NM_173076.3:c.*317_*318del (ABCA12) MANE Select	NP_775099.2:n.*317_*318del
NR_103740.2:n.8603_8604del (ABCA12)
NM_015657.4:c.*317_*318del (ABCA12)	NP_056472.2:n.*317_*318del