Canonical Allele Identifier: CA1065145447

Gene: ABCG2

Linked Data

• dbSNP Id: rs1726077227
• gnomAD v3: 4-88147016-G-GGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA
• gnomAD v4: 4-88147016-G-GGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88147044_88147045insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA , CM000666.2:g.88147044_88147045insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	GRCh38
NC_000004.11:g.89068196_89068197insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA , CM000666.1:g.89068196_89068197insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	GRCh37
NC_000004.10:g.89287220_89287221insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	NCBI36
NG_032067.2:g.89306_89307insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000237612.8:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC MANE Select	ENSP00000237612.3:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTT...
ENST00000503830.2:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ENSP00000426934.2:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTT...
ENST00000505480.6:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ENSP00000426916.2:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTT...
ENST00000650821.1:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ENSP00000498246.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTT...
ENST00000237612.7:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ENSP00000237612.3:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTT...
ENST00000503830.1:c.36-7003_36-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ENSP00000426934.1:n.36-7003_36-7002insTTTCTTTTTCTTTCTTTCTTTCT...
ENST00000505480.5:c.96-7003_96-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ENSP00000426916.1:n.96-7003_96-7002insTTTCTTTTTCTTTCTTTCTTTCT...
ENST00000515655.5:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ENSP00000426917.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTT...
NM_001257386.1:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_001244315.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
NM_004827.2:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_004818.2:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCT...
XM_005263354.2:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	XP_005263411.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
XM_005263355.2:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	XP_005263412.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
XM_005263356.2:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	XP_005263413.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
XM_011532420.1:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	XP_011530722.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
NM_001257386.2:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_001244315.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
NM_001348985.1:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_001335914.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
NM_001348986.1:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_001335915.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
NM_001348987.1:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_001335916.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
NM_001348988.1:c.-20+3175_-20+3176insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_001335917.1:n.-20+3175_-20+3176insTTTCTTTTTCTTTCTTTCTTTCTT...
NM_001348989.1:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_001335918.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
XM_005263355.4:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	XP_005263412.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
XM_011532420.3:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	XP_011530722.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
XM_017008852.2:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	XP_016864341.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...
NM_004827.3:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC MANE Select	NP_004818.2:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCT...
NM_001348989.2:c.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NP_001335918.1:n.-19-7003_-19-7002insTTTCTTTTTCTTTCTTTCTTTCTT...