Canonical Allele Identifier: CA2567078097

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978794_214978795insCACTTGAAGTCA , CM000664.2:g.214978794_214978795insCACTTGAAGTCA	GRCh38
NC_000002.11:g.215843518_215843519insCACTTGAAGTCA , CM000664.1:g.215843518_215843519insCACTTGAAGTCA	GRCh37
NC_000002.10:g.215551763_215551764insCACTTGAAGTCA	NCBI36
NG_007074.1:g.164633_164634insTGACTTCAAGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4977+9_4977+10insTGACTTCAAGTG MANE Select	ENSP00000272895.7:n.4977+9_4977+10insTGAC...
ENST00000272895.11:c.4977+9_4977+10insTGACTTCAAGTG	ENSP00000272895.7:n.4977+9_4977+10insTGAC...
ENST00000389661.4:c.4023+9_4023+10insTGACTTCAAGTG	ENSP00000374312.4:n.4023+9_4023+10insTGAC...
NM_015657.3:c.4023+9_4023+10insTGACTTCAAGTG	NP_056472.2:n.4023+9_4023+10insTGACTTCAAG...
NM_173076.2:c.4977+9_4977+10insTGACTTCAAGTG	NP_775099.2:n.4977+9_4977+10insTGACTTCAAG...
NR_103740.1:n.5277+9_5277+10insTGACTTCAAGTG
XM_011510951.1:c.4986+9_4986+10insTGACTTCAAGTG	XP_011509253.1:n.4986+9_4986+10insTGACTTC...
XM_011510952.1:c.4986+9_4986+10insTGACTTCAAGTG	XP_011509254.1:n.4986+9_4986+10insTGACTTC...
XM_011510951.2:c.4986+9_4986+10insTGACTTCAAGTG	XP_011509253.1:n.4986+9_4986+10insTGACTTC...
NM_173076.3:c.4977+9_4977+10insTGACTTCAAGTG MANE Select	NP_775099.2:n.4977+9_4977+10insTGACTTCAAG...
NR_103740.2:n.5475+9_5475+10insTGACTTCAAGTG
NM_015657.4:c.4023+9_4023+10insTGACTTCAAGTG	NP_056472.2:n.4023+9_4023+10insTGACTTCAAG...